Living with Olmsted syndrome
A very rare skin condition present from birth, with thick skin on the palms, soles, and around the mouth and eyes.
Understanding Olmsted syndrome
Other symptoms include sparse hair, nail differences, joint problems, pain, and itching. The thickening tends to get worse over time. People have a higher risk of infections and of skin cancer. Diagnosis is based on symptoms, and genetic testing can help. GARD lists onset as from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on the palms and soles
- Cracked skin and open sores
- Redness of the skin
- Sparse hair
- Nail and tooth differences
- Too much or too little sweating
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
Foundation for Ichthyosis and Related Skin Types 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: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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
Changes in the TRPV3 and MBTPS2 genes cause this condition. GARD says many forms of inheritance have been reported, including autosomal dominant and X-linked, and many cases are sporadic (a new case in a family).
Also known as: congenital palmoplantar and perioral keratoderma of olmsted; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; mutilating palmoplantar keratoderma with periorificial keratotic plaques; olms; palmoplantar and periorificial keratoderma; palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesOlmsted syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Olmsted syndrome.
Explore research for Olmsted syndrome
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- Eligibility is confirmed by the study team
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