Focal Palmoplantar Keratodermas
Richner Hanhart syndrome, also known as tyrosinemia type 2, results from mutations in the TAT gene encoding tyrosine aminotransferase, leading to elevated tyrosine levels and painful focal palmoplantar keratoderma on pressure areas. Ocular involvement is characteristic and includes dendritic keratitis, corneal ulcers, and potential blindness. Howel Evans syndrome, also known as tylosis with esophageal cancer, is an autosomal dominant disorder caused by mutations in the RHBDF2 gene. It presents with thick yellow focal palmoplantar keratoderma beginning in the 2nd decade of life and carries a markedly increased risk of esophageal squamous cell carcinoma typically developing in the 3rd to 5th decades. Huriez syndrome is another inherited palmoplantar keratoderma associated with acral squamous cell carcinoma.
Focal Palmoplantar Keratodermas
Richner Hanhart Syndrome
- Rich Man = Richner Hanhart syndrome
- Holding A Tire = Mutation in tyrosine aminotransferase
- Two Tires = Also called tyrosinemia type 2
- Foot In Pain = Focal painful palmoplantar keratoderma in weight bearing areas
- Lightning Glasses = Dendritic keratitis, corneal ulcers, blindness
Howel Evans Syndrome
- Wolf Howling = Howel Evans syndrome
- Wearing A Tie = Tylosis
- Esophagus Shape = Esophageal cancer
- Domino = Autosomal dominant
- Rubber Duck With DF = RHBDF2 gene mutation
Huriez Syndrome
- Hertz Car = Huriez syndrome
- Red Crab = Associated with acral squamous cell carcinoma