Living with Skin fragility-woolly hair-palmoplantar keratoderma syndrome
A rare genetic condition with fragile blistering skin, woolly hair and thick painful skin on palms and soles.
Understanding Skin fragility-woolly hair-palmoplantar keratoderma syndrome
The skin blisters and erodes easily with minimal injury. Hair is woolly, with some hair loss, and the nails are thick and abnormal. The skin on the palms and soles may be thickened with painful cracks. Skin around the mouth may also thicken. There are no heart problems. It starts in childhood.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Fragile skin that blisters easily
- Woolly hair and hair loss
- Thick, abnormal nails
- Thick skin on palms and soles
- Painful cracks in the skin
- Thickened skin around the mouth
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 DSP 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 and National Foundation for Ectodermal Dysplasias 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, National Foundation for Ectodermal Dysplasias
- 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
GARD lists changes in the DSP gene. It can be inherited in an autosomal dominant way (one changed copy) or an autosomal recessive way (a changed copy from each parent).
Also known as: skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome; skin fragility, wooly hair, palmoplantar keratoderma syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesSkin fragility-woolly hair-palmoplantar keratoderma syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Skin fragility-woolly hair-palmoplantar keratoderma syndrome.
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