dermatoosteolysis, Kirghizian type
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
Dermatoosteolysis Kirghizian type
related
autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
related
dermatoosteolysis, Kirghizian type
exact