Living with Hyperkeratosis-hyperpigmentation syndrome
A very rare skin condition with tiny dark spots, mostly on sun-exposed skin, and small bumps with thickened skin on the palms and soles.
Understanding Hyperkeratosis-hyperpigmentation syndrome
People have tiny dark spots mostly on sun-exposed skin. A main feature is mild small raised bumps with thickening of the skin on the palms and soles. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skin (hyperkeratosis)
- Patchy darker skin (hyperpigmentation)
- Multiple café-au-lait (light brown) spots
- Small raised bumps (papules)
- Skin sensitive to sunlight
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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperkeratosis-hyperpigmentation syndrome.
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