Living with Pachyonychia congenita syndrome
A genetic condition that mainly affects the skin and nails, with thick nails and painful calluses on the soles.
Understanding Pachyonychia congenita syndrome
Signs usually appear in the first few years of life. Almost everyone develops very painful calluses on the soles of the feet (plantar keratoderma), which can make walking painful or hard. Most people also have thick, oddly shaped fingernails and toenails. Other features can include thick skin on the palms, white patches in the mouth, and cysts.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Painful thick calluses on the soles (keratoderma)
- Thick, curved, oddly shaped nails (nail dystrophy)
- Blisters on the palms and soles
- Heavy sweating of palms and soles
- Cysts in the skin
- White patches in the mouth (oral leukoplakia)
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 genes (also called variants) cause this condition. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: congenital pachyonychia; jackson-lawler type pachyonychia congenita; jadassohn-lewandowsky syndrome; pachyonychia congenita; pachyonychia congenita, jadassohn-lewandowsky type; pc
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPachyonychia congenita syndrome · United States
- Pachyonychia Congenita ProjectPachyonychia congenita syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pachyonychia congenita syndrome.
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