Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
The autosomal recessive multicentric osteolytic disorders of childhood-Torg, Winchester, and François syndromes-predominantly affect the carpal, tarsal, and interphalangeal joints, and their progressive bone loss and crippling arthritic deformities mimic severe juvenile rheumatoid arthritis. In a consanguineous Saudi Arabian family two affected sibs with facial anomalies and short stature displayed a distal arthropathy of the metacarpal, metatarsal, and interphalangeal joints starting in the first few months of life that eventually progressed to the proximal joints and resulted in crippling ankylosis and severe generalized osteopenia. Facial changes included proptosis, a narrow nasal bridge, bulbous nose, and micrognathia. In addition, they had large, painful fibrocollagenous palmar and plantar pads and mild body hirsutism. Affected individuals were of normal intelligence and had normal renal function. Routine hematologic, chemistry, and rheumatoid studies were within normal limits. Histologic examination of bone marrow and an interphalangeal joint biopsy were not informative. The autosomal recessive inheritance, clinical, and radiologic characteristics of the affected sibs suggested that they had a form of multicentric osteolysis most closely resembling the Torg syndrome, but with a unique facial appearance, fibrocollagenous pads, and body hirsutism not noted in the original description of the syndrome.
Al Aqeel
A
A
Department of Pediatrics, Riyadh Armed Forces Hospital and King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia.
Al Sewairi
W
W
Edress
B
B
Gorlin
R J
RJ
Desnick
R J
RJ
Martignetti
J A
JA
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D000328:Adult; D001168:Arthritis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012529:Saudi Arabia; D013577:Syndrome