Living with Autosomal dominant palmoplantar keratoderma and congenital alopecia
A rare genetic skin condition with thick skin on the palms and soles and sparse hair.
Understanding Autosomal dominant palmoplantar keratoderma and congenital alopecia
People with this condition have very little hair on the scalp and body from birth. The skin on the palms of the hands and soles of the feet is thickened. Signs are usually seen in the newborn period or infancy. There are no other hand complications.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skin on palms and soles
- Sparse scalp hair
- Sparse eyebrows and eyelashes
- Dry skin
- Poorly formed or grooved nails
- Rough, bumpy skin (keratosis pilaris)
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 GJA1 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 and 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: Foundation for Ichthyosis and Related Skin Types, 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 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
It is caused by changes in the GJA1 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome; palmoplantar keratoderma and congenital alopecia 1; palmoplantar keratoderma and congenital alopecia stevanovic type; palmoplantar keratoderma and congenital alopecia type 1; palmoplantar keratoderma and congenital alopecia, stevanovic type
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal dominant palmoplantar keratoderma and congenital alopecia · United States
- 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 Autosomal dominant palmoplantar keratoderma and congenital alopecia.
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