Diffuse Palmoplantar Keratodermas (Isolated, Non-Syndromic)
Diffuse Palmoplantar Keratodermas with Ichthyosis
Diffuse Palmoplantar Keratodermas with Associated Features/Syndromic
Focal Palmoplantar Keraoderma without Associated Features
Focal Palmoplantar Keraoderma with Associated Features/Syndromic
Punctate Palmoplantar Keratoderma without Associated Features
Punctate Palmoplantar Keratoderma with Associated Features Syndromic
Acquired Keratodermas and Related Conditions
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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