Living with Palmoplantar keratoderma, Bothnian type
A genetic skin condition that thickens the skin on the palms and soles, starting in infancy or childhood.
Understanding Palmoplantar keratoderma, Bothnian type
The thick skin is brown to yellowish and can sometimes spread onto the tops of the fingers. It begins in infancy or childhood. GARD says there are no changes in the hair, teeth, or nails, and no other organs are involved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- Heavy sweating (hyperhidrosis)
- Itching
- Blisters or open sores on the skin
- Redness of the skin
- Fungal infection of the skin that keeps coming back
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 AQP5 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 AQP5 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: autosomal dominant diffuse palmoplantar keratoderma, norrbotten type; diffuse palmoplantar keratoderma, bothnian type; neppk; non-epidermolytic palmoplantar keratoderma
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPalmoplantar keratoderma, Bothnian type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmoplantar keratoderma, Bothnian type.
Explore research for Palmoplantar keratoderma, Bothnian type
Explore actively recruiting Palmoplantar keratoderma, Bothnian type studies with HealthSpark.
Find actively recruiting studies for Palmoplantar keratoderma, Bothnian type 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 Palmoplantar keratoderma, Bothnian type 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 Palmoplantar keratoderma, Bothnian type
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 Palmoplantar keratoderma, Bothnian type 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.