SHORT COMMUNICATIONPalmoplantar Keratoderma in Association with Carcinoma of the Esophagus Maps to Chromosome 17q Distal to the Keratin Gene Cluster
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RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
2012, American Journal of Human GeneticsCitation Excerpt :Pathogenesis of esophageal squamous carcinoma is still poorly understood, and there are few targeted drugs to effectively treat the condition. Type A tylosis (focal nonepidermolytic palmoplantar keratoderma; Figure 1A) is associated with a high risk of squamous cell esophageal cancer (up to 95% by age 65) in three extensive pedigrees (an example of the UK pedigree is shown in Figure S1, available online).2–4 The incidence of other cancers in these families is not altered.2,4
Upper gastrointestinal cancer predisposition syndromes
2010, Hematology/Oncology Clinics of North AmericaCitation Excerpt :Tylosis is a rare autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles. This condition has also been associated with the development of esophageal SCC,6–10 initially observed in large pedigrees from the United Kingdom9 and from the United States7 that demonstrate an autosomal dominant inheritance pattern with complete penetrance of the skin changes by the age of 20 years. The estimated lifetime risk of developing esophageal cancer ranges from 40% (United States pedigree) to 92% (United Kingdom pedigree) by the age of 70 years.10
The palmoplantar keratodermas: Much more than palms and soles
1999, Molecular Medicine TodayIrhom2: An emerging adaptor regulating immunity and disease
2020, International Journal of Molecular Sciences