Overview
Dermatoosteolysis, Kirghizian type, is an extremely rare inherited condition that affects both the skin and bones. The name comes from the combination of 'dermato' (skin) and 'osteolysis' (bone destruction or dissolving). It was first described in families from the Kirghiz (Kyrgyz) population of Central Asia. In this condition, affected individuals develop skin abnormalities, including thickening, scarring, or breakdown of the skin, along with progressive destruction of bone tissue, particularly in the hands and feet. The bone changes can lead to shortening or loss of fingers and toes over time. Skin findings may include nodules, ulcers, or areas of abnormal scarring. The condition typically begins in childhood and can progressively worsen. Because this disease is so rare, with only a handful of cases reported in the medical literature, the full range of symptoms and the underlying genetic cause are not yet completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms, protecting the skin, and addressing bone complications. Patients benefit from a team of specialists including dermatologists, orthopedic surgeons, and geneticists who work together to provide the best possible care and quality of life.
Key symptoms:
Progressive destruction of bones in the hands and feetShortening or loss of fingers and toesSkin thickening or hardeningSkin ulcers or open soresScarring of the skinSkin nodules or lumpsJoint stiffness or deformityPain in the hands and feetFragile or easily damaged skinNail abnormalities
Clinical phenotype terms (21)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Dermatoosteolysis, Kirghizian type.
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Specialists
View all specialists →No specialists are currently listed for Dermatoosteolysis, Kirghizian type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Dermatoosteolysis, Kirghizian type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How can we monitor the progression of bone changes in my child's hands and feet?,What is the best approach to managing skin wounds and preventing infection?,Are there any genetic tests that could help confirm the diagnosis or identify the specific gene involved?,What physical or occupational therapy options are available to help maintain function?,Should other family members be tested or evaluated?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care?
Common questions about Dermatoosteolysis, Kirghizian type
What is Dermatoosteolysis, Kirghizian type?
Dermatoosteolysis, Kirghizian type, is an extremely rare inherited condition that affects both the skin and bones. The name comes from the combination of 'dermato' (skin) and 'osteolysis' (bone destruction or dissolving). It was first described in families from the Kirghiz (Kyrgyz) population of Central Asia. In this condition, affected individuals develop skin abnormalities, including thickening, scarring, or breakdown of the skin, along with progressive destruction of bone tissue, particularly in the hands and feet. The bone changes can lead to shortening or loss of fingers and toes over tim
How is Dermatoosteolysis, Kirghizian type inherited?
Dermatoosteolysis, Kirghizian type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dermatoosteolysis, Kirghizian type typically begin?
Typical onset of Dermatoosteolysis, Kirghizian type is childhood. Age of onset can vary across affected individuals.