Living with Autosomal recessive palmoplantar keratoderma and congenital alopecia
A rare inherited skin condition with no hair from birth, thick skin on palms and soles, and early cataracts.
Understanding Autosomal recessive palmoplantar keratoderma and congenital alopecia
It is present from birth. It is usually linked with cataracts, slowly worsening tightening and thickening of the skin of the fingers (sclerodactyly), and a band-like skin constriction on the fingers or toes (pseudo-ainhum).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Complete hair loss (alopecia totalis)
- Thickened skin on palms and soles
- Cataracts (clouding of the lens)
- Joint stiffness
- Poorly formed nails
- Firm lumps under the skin
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in LSS 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
- Eye disease specialists (ophthalmologists); 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 LSS gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia 2; palmoplantar keratoderma and congenital alopecia type 2; palmoplantar keratoderma and congenital alopecia, wallis type; ppk-ca, wallis type
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive palmoplantar keratoderma and congenital alopecia · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
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