Living with Focal palmoplantar keratoderma with joint keratoses
A rare genetic skin condition with thick patches on the palms, soles and joints, starting in infancy.
Understanding Focal palmoplantar keratoderma with joint keratoses
The thickened patches form on areas of the palms and soles that bear pressure and rubbing. Thick plaques also appear over the knees, elbows, ankles, and finger joints. It begins in the newborn or infant years.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Thick patches on the palms
- Thick patches on the soles
- Thick plaques on knees and elbows
- Thick plaques on ankles and finger joints
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 it. It is autosomal dominant, which means one changed copy of the gene is enough.
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesFocal palmoplantar keratoderma with joint keratoses · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Focal palmoplantar keratoderma with joint keratoses.
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