Living with Palmoplantar keratoderma-deafness syndrome
A genetic condition with thick skin on the palms and soles and hearing loss that starts in childhood.
Understanding Palmoplantar keratoderma-deafness syndrome
Thick skin on the palms and soles (palmoplantar keratoderma) starts in childhood. Hearing loss ranges from mild to profound, begins in early childhood, and gets worse over time. High-pitched sounds are especially hard to hear. Some people have only skin changes or only hearing loss, even within one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- Hearing loss from inner ear nerve changes (sensorineural)
- Thickened skin (hyperkeratosis)
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 ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GJB2 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
- Ear, nose, and throat specialists (otolaryngologists); 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 GJB2 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: diffuse palmoplantar keratoderma with deafness (subtype); focal palmoplantar keratoderma with sensorineural deafness (subtype); hereditary palmoplantar keratoderma with deafness (subtype); keratoderma palmoplantar, with deafness; palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPalmoplantar keratoderma-deafness syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmoplantar keratoderma-deafness syndrome.
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