Living with Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
A rare genetic condition with thick skin on the palms and soles, a higher chance of skin cancer, and differences in sex development.
Understanding Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
People have thick skin on the palms and soles and a higher chance of a skin cancer called squamous cell carcinoma. Some people with two X chromosomes (46,XX) develop male characteristics, called sex reversal. GARD lists the onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- Squamous cell skin cancer
- Sex reversal (46,XX with male development)
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, hormone specialists, maternal-fetal medicine specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in RSPO1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 RSPO1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome.
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