Living with Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
A rare genetic skin condition with hair loss, uneven skin color, thick palms and soles, and nail and tooth problems.
Understanding Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
It causes hair loss, patches of lighter and darker skin, thickened skin on the palms and soles (palmoplantar keratoderma), and poorly formed nails. Brittle teeth that are lost early have also been described. GARD says people develop repeated skin cancers (squamous cell carcinomas) later in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hair loss (alopecia)
- Lighter and darker patches of skin
- Thickened palms and soles
- Poorly formed nails (nail dystrophy)
- Early tooth loss
- Squamous cell skin cancer
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 cancer specialists, genetic specialists, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SASH1 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
- Cancer specialists (oncologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); 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
Changes in the SASH1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
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