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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.
Features include: Small nail, Hypertriglyceridemia, Carcinoma, and Gynecomastia and 14 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 5 | Small nail, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis |
RSPO1 function has not been fully characterized.
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is associated with mutations in the RSPO1 gene on chromosome 1.
Genetic testing for RSPO1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome.
1 publication has been identified in PubMed for palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome. Research spans Review / Meta-Analysis (100%).
Yavas Abalı Z (2024). [PMID: 38812815](https://pubmed.ncbi.nlm.nih.gov/38812815/). *Frontiers in endocrinology*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center