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.

Juvenile rheumatoid arthritis: The Saudi Experience.

We retrospectively studied the charts of 115 Arab children with juvenile rheumatoid arthritis (JRA), all of whom satisfied the American College of Rheumatology (ACR) criteria for JRA. They were followed between 1978 and 1993 at King Faisal Specialist Hospital and Research Centre and King Khalid University Hospital in Riyadh, Saudi Arabia. All patients were followed up for at least 18 months. The female to male ratio was 1.2:1, and the mean age of onset of the disease was six years. Ninety of the patients were Saudis and the remainder were Middle Eastern Arabs. The mode of onset was systemic in 44%, polyarticular in 30%, and periarticular in 26%. Chronic uveitis was found in only two of the children (1.7%). Antinuclear antibody (ANA) was determined in 96 patients and was positive in 29 (30%). Amyloidosis was not detected in this study population. The clinical and laboratory manifestations of this disease are presented. This review shows that the spectrum of clinical presentation differs in Arab children from those in the West. Systemic and polyarticular onset subtypes were more common, and the incidence of uveitis and amyloidosis was lower. Whether this reflects a genuine difference in the pattern of the disease, or is due to bias in referral pattern, remains to be detected. The answer is currently being sought through an ongoing prospective study.