Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

MONDO:0012530

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.

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, palmoplantar hyperkeratosis and true hermaphroditism, palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Skin disorder (132) Endocrine system disorder (72) Reproductive system disorder (15) Human disease (14) Developmental defect during embryogenesis (8) Disorder of sexual differentiation (8) Hereditary skin disorder (6) Autosomal recessive disease (4)

Trials to join now! 3 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused ENROLLING_BY_INVITATION

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

Phase: NA • Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Broader categories

Reading the genetic code to understand differences in sex development