Dermatoosteolysis Kirghizian type

From WikiMD's Wellness Encyclopedia

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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