Living with Hypopigmentation-punctate palmoplantar keratoderma syndrome
A skin condition, also called Cole disease, with light patches of skin and small thickened spots on the palms and soles.
Understanding Hypopigmentation-punctate palmoplantar keratoderma syndrome
People have areas of unusually light skin, typically on the arms and legs, and spots of thickened skin on the palms and soles. These features are present at birth or develop in the first year. Some people develop calcium deposits in the tendons, which can cause pain with movement. Deposits may also occur in the skin or breast tissue.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Light patches of skin
- Thickened spots on palms and soles
- Raised, thickened bumps
- Calcium deposits in tendons or tissue
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 ENPP1 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
- 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 ENPP1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: cole disease; guttate hypopigmentation and punctate palmoplantar keratoderma; guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification; hypopigmentation and punctate keratosis of the palms and soles
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesHypopigmentation-punctate palmoplantar keratoderma syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Hypopigmentation-punctate palmoplantar keratoderma syndrome.
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