Symptoms of Winchester syndrome usually begin with pain and limited mobility of the hand and feet noted in the first few years of life due to carpal and metacarpal deterioration (osteolysis). Further bone loss is experienced in other parts of the skeleton leading to joint pain and dysfunction as well as diffuse osteopenia and osteoporosis. The disease progresses from small to large joint involvement often affecting the knees, hips, shoulders, and elbows. The bony changes ultimately lead to joint destruction, fixed contractures, pain, and impaired mobility. Hypertrichosis and skin changes including hyperpigmentation and thick, leather-like skin are seen. Gingival hypertrophy has also been reported.
Since being described in 1969, fewer than 20 cases have been reported in the literature. Symptoms begin to manifest in infancy, although diagnosis is usually delayed due to the rarity of the condition. Winchester syndrome is considered one of the osteolysis disorders and is caused by a mutation in the MMP14 gene. No specific treatments are available for Winchester syndrome. The osteoporosis associated with the condition does not appear to respond to conventional treatments, such as bisphosphonates.
M85.60 – Other cyst of bone, unspecified site
254151006 – Winchester syndrome
Differential Diagnosis & Pitfalls