dermatoosteolysis, Kirghizian type
Dermatoosteolysis Kirghizian type
related
autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
related
dermatoosteolysis, Kirghizian type
exact
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.
MONDO:0019287
ectodermal dysplasia syndrome
is_a