Living with Punctate acrokeratoderma freckle-like pigmentation
A rare skin condition with small hard bumps on the hands and feet and freckle-like spots, starting in childhood.
Understanding Punctate acrokeratoderma freckle-like pigmentation
Skin-colored bumps (keratotic papules) appear on the hands and feet, along with markedly thickened skin on the palms and soles. Freckle-like spots appear on the backs of the hands and feet. GARD lists onset in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Skin-colored hard bumps on the hands and feet
- Thickened skin on the palms and soles
- Freckle-like spots on the backs of the hands and feet
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
GARD says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
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 Punctate acrokeratoderma freckle-like pigmentation.
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