Living with Hereditary sclerosing poikiloderma
A rare inherited skin condition with patchy skin color changes and hardened skin on the palms and soles.
Understanding Hereditary sclerosing poikiloderma
The changes are strongest in the folds and on the outer surfaces of the joints. The palms and soles harden, and bands of thickened, hardened skin form in the underarms and the bends of the elbows and knees. Calcium deposits under the skin, finger clubbing, Raynaud phenomenon, and heart differences have also been reported. It starts in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- Patchy skin color changes (poikiloderma)
- Hardened skin on the palms and soles
- Bands of thick skin in the underarms and joint bends
- Calcium deposits under the skin
- Finger clubbing
- Raynaud phenomenon
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 changes in genes (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hereditary sclerosing poikiloderma, weary type; weary-kindler syndrome
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 Hereditary sclerosing poikiloderma.
Explore research for Hereditary sclerosing poikiloderma
Explore actively recruiting Hereditary sclerosing poikiloderma studies with HealthSpark.
Find actively recruiting studies for Hereditary sclerosing poikiloderma with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hereditary sclerosing poikiloderma studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hereditary sclerosing poikiloderma
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hereditary sclerosing poikiloderma experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.