Osteoporosis in Stickler syndrome. A new family case with bone histology study.
The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by Stickler in 1965, due to mutations on the collagen genes. Currently about 40 different genes have been identified which encode for at least 27 different collagens. The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). More recently, mutations in COL11A2 and in the COL9A1 gene have been reported with particular phenotypes. The main features of this autosomal inherited disease are ocular, auditory with orofacial abnormalities and early-onset osteoarthritis. We report the clinical presentation of an adult and his son, with a particular focus on the bone status of the father, radiography, bone densitometry and transiliac bone biopsy showing that he was suffering from osteoporosis. The lumbar bone mineral density was low with a Z-score at -2.9. Transiliac bone biopsy showed a dramatic decrease of trabecular bone volume (8.6%; Nl: 19.5±4.9%), thin trabeculae and a disorganized trabecular network. A slight increase of osteoid parameters was observed. Bone resorption was markedly increased with an excessive number of active (TRAcP+) osteoclasts. The cortical width was normal, but a slight increase of cortical porosity was found. Osteoporosis has been rarely described in the SS. It might be useful to systematically perform a bone densitometry in all patients with SS and to discuss the indication of a transiliac bone biopsy in severe cases.
Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France.
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Insalaco
Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; Groupe études remodelage osseux et biomatériaux (GEROM), IRIS-IBS institut de biologie en santé, université d'Angers, CHU d'Angers, 49933 Angers cedex, France.
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Legrand
Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; Groupe études remodelage osseux et biomatériaux (GEROM), IRIS-IBS institut de biologie en santé, université d'Angers, CHU d'Angers, 49933 Angers cedex, France.
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Bouvard
Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; Groupe études remodelage osseux et biomatériaux (GEROM), IRIS-IBS institut de biologie en santé, université d'Angers, CHU d'Angers, 49933 Angers cedex, France. Electronic address: maurice.audran49@gmail.com.
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Audran
D000328:Adult; D001168:Arthritis / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D001416:Back Pain / Q000209:etiology; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D024043:Collagen Type II / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics; D003240:Connective Tissue Diseases / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D003720:Densitometry; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009216:Myopia / Q000209:etiology; D010024:Osteoporosis / Q000000981:diagnostic imaging* / Q000209:etiology; D010641:Phenotype; D011859:Radiography; D012163:Retinal Detachment / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics
C574182:COL11A1 protein, human; C499177:COL2A1 protein, human; D024043:Collagen Type II; D024161:Collagen Type XI
Arthrose précoce; Bone histology; Collagen mutations; Early osteoarthritis; Histologie osseuse; Mutations du collagène; Osteoporosis; Ostéoporose; Stickler syndrome; Syndrome de Stickler