Living with Dermatoosteolysis, Kirghizian type
A rare genetic condition starting in infancy with recurring skin sores, joint pain, and bone changes in the hands and feet.
Understanding Dermatoosteolysis, Kirghizian type
It includes recurring skin ulcers, fever, missing teeth, nail changes, and eye surface inflammation (keratitis). In childhood it runs a self-limiting course but can leave heavy scarring, long-term joint disease, curved spine, and vision problems. GARD notes no further descriptions since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breakdown of bone (osteolysis)
- Recurring skin ulcers
- Joint pain
- Nail changes
- Hand and foot differences
- Fever
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't name a gene. It lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent.
Also known as: dermatoosteolysis kirghizian type; kirghizian dermatoosteolysis
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dermatoosteolysis, Kirghizian type.
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