Living with Palmoplantar keratoderma-spastic paralysis syndrome
A rare inherited condition with small, hard spots of thick skin on the palms and soles and slowly worsening leg stiffness.
Understanding Palmoplantar keratoderma-spastic paralysis syndrome
People have small, separate spots of thick skin on the palms and soles. Some also have slowly worsening stiffness and weakness (spastic paralysis), mostly in the legs. It can begin at any time in life. GARD notes there have been no further descriptions in the medical literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- Muscle stiffness (spasticity)
- Trouble walking (gait changes)
- High-arched feet (pes cavus)
- Nerve damage in the hands and feet (peripheral neuropathy)
- Changes in the fingernails and toenails
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 is autosomal dominant, which means one changed copy of the gene is enough to cause it. GARD doesn't list a specific gene.
Also known as: palmoplantar hyperkeratosis-spastic paralysis syndrome; palmoplantar keratoderma, spastic paralysis syndrome; powell venencie gordon syndrome; powell-venencie-gordon syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPalmoplantar keratoderma-spastic paralysis 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-spastic paralysis syndrome.
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