Dermatoosteolysis, Kirghizian type

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A rare genetic disease characterized by infantile onset of recurrent skin ulcerations arthralgias fever peri-articular fistulous osteolysis oligodontia nail dystrophy and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization chronic arthroses pseudoacromegalic appearance of hands and feet secondary scoliosis and visual impairment. There have been no further descriptions in the literature since 1983.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Dermatoosteolysis, Kirghizian type?

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