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Dermatoosteolysis, Kirghizian type
rareDermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.
- Identifiers
- MONDO:0009095 OMIM:221810Orphanet:1657
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia · Dermatoosteolysis Kirghizian type
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