Dermatoosteolysis, Kirghizian type
MONDO:0009095Dermatoosteolysis, 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.
Also known as: dermatoosteolysis, Kirghizian type, Dermatoosteolysis Kirghizian type, Kirghizian Dermatoosteolysis, autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
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