Living with Progressive osseous heteroplasia
A rare genetic condition in which bone forms in the skin and muscle, starting in infancy or childhood.
Understanding Progressive osseous heteroplasia
Bone that forms outside the skeleton starts in the deep layers of skin and fat. It gradually moves into other tissues like muscle and tendons. Bony spots in the skin may be painful and may turn into open sores. Over time, joints can become involved and movement can be limited. It usually shows in infancy, but sometimes not until later in childhood or early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Bone forming in muscle (ectopic ossification)
- Calcium deposits outside the bones
- Firm lumps under the skin
- Limited joint movement
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 bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GNAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Progressive Osseous Heteroplasia Association 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
This condition is caused by changes in the GNAS gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: cutaneous ossification; cutaneous osteosis; ectopic ossification, familial; familial ectopic ossification; miliary osteoma; osseus heteroplasia, progressive
Patient organizations
- Progressive Osseous Heteroplasia AssociationProgressive osseous heteroplasia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive osseous heteroplasia.
Explore research for Progressive osseous heteroplasia
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