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Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
The skin in the Winchester syndrome.
Archives of Dermatology 1975 Februrary
The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities, and thickening and hypertrichosis of the skin, unlike that seen in other genodermatoses. The early stages of cutaneous abnormalities are characterized by proliferation of fibroblasts deep in the dermis, while hypocellular homogenization of the collagen is evident later. Ultrastructural peculiarities of fibroblasts include dilated and vacuolated mitochondria, the presence of varying amounts of myofilaments in the cytoplasm, and a prominent fibrous nuclear lamina. Cells other than fibroblasts display no abnormalities. The basic defect in this disorder is unknown; however, it may be related to abnormal function of fibroblasts.
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