Dermatoosteolysis, Kirghizian type
Dermatoosteolysis, Kirghizian type
Definition
Dermatoosteolysis, 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 — per MONDO