Living with Diffuse palmoplantar keratoderma with painful fissures
A rare genetic skin condition with thick skin on the palms and soles that tends to crack painfully.
Understanding Diffuse palmoplantar keratoderma with painful fissures
The thick skin tends to split into painful cracks (fissures). GARD lists onset in the newborn or infant period.
Signs & symptoms
GARD doesn't list a symptom list. Based on its summary, features include:
- Thick skin on the palms and soles
- Painful cracks in the skin (fissures)
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 DSG1 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 DSG1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesDiffuse palmoplantar keratoderma with painful fissures · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Diffuse palmoplantar keratoderma with painful fissures.
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