Tylosis with Esophageal Cancer (TOC)

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GARD: ¹⁹ Tylosis with esophageal cancer (TOC) is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing.

MalaCards based summary: Tylosis with Esophageal Cancer, also known as palmoplantar keratoderma-esophageal carcinoma syndrome, is related to palmoplantar keratoderma, nonepidermolytic and neuroendocrine tumor. An important gene associated with Tylosis with Esophageal Cancer is RHBDF2 (Rhomboid 5 Homolog 2). Affiliated tissues include skin, breast and lung, and related phenotypes are nausea and vomiting and palmoplantar keratoderma

Orphanet: ⁵⁸ A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.

OMIM®: ⁵⁷ Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (148500) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has material basis in heterozygous mutation in RHBDF2 on chromosome 17q25.1.

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.

Wikipedia: ⁷⁵ Howel-Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Tylosis with Esophageal Cancer