palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Findings
No curated finding names palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.
Definition from the Mondo Disease Ontology (MONDO:0012530), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Sex reversalHPOHP:0012245
- Very frequent (80% to 99% of cases)
- Squamous cell carcinoma of the skinHPOHP:0006739
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RSPO1HGNC:21679
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- Also called
- palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversalpalmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome