dermatoosteolysis, Kirghizian type
Findings
No curated finding names dermatoosteolysis, Kirghizian type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009095), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal diaphysis morphologyHPOHP:0000940
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormality of the handHPOHP:0001155
- Very frequent (80% to 99% of cases)
- Abnormality of the wristHPOHP:0003019
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
Show the remaining 9
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- OligodontiaHPOHP:0000677
- Very frequent (80% to 99% of cases)
- OsteoarthritisHPOHP:0002758
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of