Palmoplantar Keratoderma with Sex reversal and Squamous Cell Carcinoma

  • Rare
  • Described in context of consanguinity 
  • R-spondin 1 gene mutation RSPO1 
  • Autosomal recessive inheritance

  • Altered gonadal development via abnormal β-catenin signaling activation

  • Diffuse non-epidermolytic palmoplantar keratoderma among infants, sclerodactyly, atrophy, nail dystrophy, periodontitis 
  • Elevated risk of acral squamous cell carcinoma
  • Patients with XX genotype
    • male phenotype (female to male)
    • ambiguous genitalia and / or hermaphroditism

  • Unknown

  • Unknown