Living with Punctate palmoplantar keratoderma type 1
A skin condition with hard, round bumps on the palms and soles, starting in the teen years or later.
Understanding Punctate palmoplantar keratoderma type 1
Signs usually begin in early adolescence or later. The bumps can be painful for some people. Some people have used surgery, such as removing the bumps and skin grafting.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hard, round bumps on the palms and soles
- Thickened skin on the palms and soles (keratoderma)
- Pain in the bumps for some people
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 AAGAB 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
This condition can be caused by changes in the AAGAB gene. It is usually autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: buschke fischer brauer syndrome; buschke-fischer-brauer syndrome; keratodermia palmoplantaris papulosa buschke fischer brauer type; keratodermia palmoplantaris papulosa, buschke-fischer-brauer type; ppkp1
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPunctate palmoplantar keratoderma type 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Punctate palmoplantar keratoderma type 1.
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