Dermatoosteolysis, Kirghizian type
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations arthralgias fever peri-articular fistulous osteolysis oligodontia nail dystrophy and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization chronic arthroses pseudoacromegalic appearance of hands and feet secondary scoliosis and visual impairment. There have been no further descriptions in the literature since 1983.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Dermatoosteolysis, Kirghizian type?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.