Dermatoosteolysis Kirghizian type
Alternate names
Kirghizian Dermatoosteolysis; Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
Definition
Dermatoosteolysis, Kirghizian type, is characterised 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.
NIH genetic and rare disease info
Dermatoosteolysis Kirghizian type is a rare disease.
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