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February 1975

The Skin in the Winchester Syndrome: Histologic and Ultrastructural Studies

Author Affiliations

From Harbor General Hospital, Torrance, Calif, and the UCLA School of Medicine, Los Angeles (Drs. Cohen and Hollister), and the University of California at Irvine, School of Medicine, Irvine (Dr. Reed).

Arch Dermatol. 1975;111(2):230-236. doi:10.1001/archderm.1975.01630140088012

The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoidlike 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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