bone club 21/06/17 eve piekarski service de médecine nucléaire …€¦ · • ng c, schwartzman...
TRANSCRIPT
Bone Club 210617
Eve Piekarski
Service de Meacutedecine Nucleacuteaire CHU Henri Mondor ndash Pr Itti
Mr B
bull 29 ans
bull Douleurs lombo-sacreacutees
bull Horaire mixte
bull Efficaciteacute des AINS
bull Anteacuteceacutedent de hernie discale L4-L5 opeacutereacutee en janvier 2017
Mr B
bull Cliniquement
ndash Raideur rachidienne
ndash Pas de signe extra rhumatologique
bull Biologie N
bull Suspicion de spondylarthropathie
Scintigraphie osseuse
bull Le 300517
Sur les images preacutecoces on retrouve
bull Une hypercaptation lombaire drsquointensiteacute modeacutereacutee
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Mr B
bull 29 ans
bull Douleurs lombo-sacreacutees
bull Horaire mixte
bull Efficaciteacute des AINS
bull Anteacuteceacutedent de hernie discale L4-L5 opeacutereacutee en janvier 2017
Mr B
bull Cliniquement
ndash Raideur rachidienne
ndash Pas de signe extra rhumatologique
bull Biologie N
bull Suspicion de spondylarthropathie
Scintigraphie osseuse
bull Le 300517
Sur les images preacutecoces on retrouve
bull Une hypercaptation lombaire drsquointensiteacute modeacutereacutee
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Mr B
bull Cliniquement
ndash Raideur rachidienne
ndash Pas de signe extra rhumatologique
bull Biologie N
bull Suspicion de spondylarthropathie
Scintigraphie osseuse
bull Le 300517
Sur les images preacutecoces on retrouve
bull Une hypercaptation lombaire drsquointensiteacute modeacutereacutee
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Scintigraphie osseuse
bull Le 300517
Sur les images preacutecoces on retrouve
bull Une hypercaptation lombaire drsquointensiteacute modeacutereacutee
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Sur les images preacutecoces on retrouve
bull Une hypercaptation lombaire drsquointensiteacute modeacutereacutee
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Pour poursuivre les explorations
bull Tomoscintigraphie lombaire + bassin
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Radiographies
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Quel diagnostic retenez-vous
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Osteacuteopoiumlkilose
bull Pathologie rare 150 000 pas de diffeacuterence HF
bull Asymptomatique (lt20 douleurs)
bull Transmission AD (sporadique)
bull Gegravene LEMD3
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Gegravene LEMD3
bull LEMD3 (LEM domain containing 3)
bull Code proteacuteine mb nucleacuteaire int Man1 qui inhibe la voie SMAD (TGF beta BMP bone morphogenic protein)
bull Fibroblastes
bull Mutations perte de fonction
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Osteacuteopoiumlkilose
bull Multiples leacutesions hyperostotiques
bull Svt bilateacuteral et symeacutetrique
bull Scinti le plus svt ndash
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review Tsai SY et al Medicine (Baltimore) 2016
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-Ollendorf Syndrome Variant Korman B et al Case Rep Dermatol Med 2013
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Diagnostic diffeacuterentiel
bull Leacutesions secondaires
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Diagnostic diffeacuterentiel
bull Buschke-Ollendorf syndrome (BOS)
ndash Gegravene LEMD3
ndash Manifestations cutaneacutees
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome Kratzsch J et al JAMA Dermatol 2016
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Diagnostic diffeacuterentiel
bull Meacutelorheacuteostose
ndash Hyperostose des os longs
ndash Pheacutenomegravene drsquohaplo-insuffisance (hypothegravese de laquo somatic second hit raquo)
Melorheostosis segmental osteopoikilosis or a separate entity Kadhim M et al J Pediatr Orthop 2015
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Diagnostic diffeacuterentiel
bull Pseudo-osteacuteopoiumlkilose Berardinelli-Seip congenital generalized lipodystrophy (BSCL or CGL) type 1 (genetic lipodystrophic syndrome)
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
MERCI DE VOTRE ATTENTION
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B
Bibliographie
bull Negi RS Manchanda KL Sanga S et al Osteopoikilosis ndash spotted bone disease Med J Armed Forces India201369196-8
bull Mahbouba J Mondher G Amira M et al Osteopoikilosis a rare cause of bone pain Caspian J Intern Med 20156177ndash9
bull Ng C Schwartzman L Moadel R et al Osteopoikilosis a benign condition with the appearance of metastatic bonedisease J Clin Oncol 201533e77ndash8
bull An YS Yoon JK Lee MH et al Abnormal bone scan in an adult with osteopoikilosis Clin Nucl Med 200429856ndash8bull Tong EC Samii M Tchang F Bone imaging as an aid for the diagnosis of osteopoikilosis Clin Nucl Med
198813816ndash9bull Mungovan JA Tung GA Lambiase RE et al Tc-99m MDP uptake in osteopoikilosis Clin Nucl Med 1994196ndash8bull Hellemans J Preobrazhenska O Willaert A et al Loss-of-function mutations in LEMD3 result in osteopoikilosis
Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004361213ndash8bull Gutierrez D Cooper KD Mitchell AL et al Novel somatic mutation in LEMD3 splice site results in Buschke-
Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis Pediatr Dermatol 2015 32e219ndash20bull Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECTCT A case report and literature review
Tsai SY et al Medicine (Baltimore) 2016 bull Case Rep Dermatol Med 201620162483041 doi 10115520162483041 Epub 2016 Jun 13Mutation in LEMD3
(Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea A New Buschke-OllendorfSyndrome VariantKorman B