Living with Keratoderma with scleroatrophy of the extremities
A rare genetic skin condition with tight, thin skin on the hands, thick palms and soles, and nail changes, starting at birth.
Understanding Keratoderma with scleroatrophy of the extremities
Skin on the hands is tight and thin (scleroatrophy) from birth, with stiff, tapered fingers (sclerodactyly). Palms and soles are thick. Nails can be small, ridged, clubbed, or white. Palms may sweat less. GARD notes a high chance of early-onset squamous cell skin cancer in affected skin areas. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened palms and soles
- Tight, thin skin on the hands (sclerodactyly)
- Small or abnormal nails
- Dry skin
- Skin that is less stretchy
- Reduced sweating of the palms
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.
- 3Consider genetic testing
Changes in SMARCAD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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 SMARCAD1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: hrz; huriez syndrome; keratoderma with scleroatrophy of extremities; palmoplantar hyperkeratosis sclerodactyly syndrome; palmoplantar hyperkeratosis-sclerodactyly syndrome; palmoplantar keratoderma sclerodactyly syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesKeratoderma with scleroatrophy of the extremities · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Keratoderma with scleroatrophy of the extremities.
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