Keratosis palmoplantaris with esophageal carcinomaQ82.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Diffuse palmoplantar keratoses with leukoplakia; Howel-Evans Syndrome; MIM 148500; TOC; Tylosis with esophageal cancer

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HistoryThis section has been translated automatically.

Clarke and McConell, 1954; Howel-Evans et al., 1958

DefinitionThis section has been translated automatically.

Probably autosomal dominant inherited paraneoplastic genodermatosis with diffuse palmoplantar keratosis and hyperhidrosis manifesting between the ages of 5 and 15 years. Often oral leukoplakia is observed simultaneously. In 70% development of esophageal carcinoma around the age of 50. Until the age of 65 the risk is 95%.

Occurrence/EpidemiologyThis section has been translated automatically.

Androtrophy.

EtiopathogenesisThis section has been translated automatically.

It is based on heterozygous loss-of-function mutations in the iRHBDF2 gene ("rhomboid family member 2; also called TOC= tylosis (o)esophageal cancer), which is mapped on chromosome 17q25.

ManifestationThis section has been translated automatically.

The palmar and plantar keratoses develop in childhood, the esophageal carcinoma in middle age.

Clinical featuresThis section has been translated automatically.

Until early adulthood, callus-like, waxy yellow hyperkeratoses develop on the palms of the hands and soles of the feet. The palm and arch of the foot remain mostly free. Further leukokeratosis and a keratosis pilaris.

TherapyThis section has been translated automatically.

Monitoring and treatment of a possibly developing esophageal cancer. Therapy of the skin symptoms according to the keratosis palmoplantaris diffusa circumscripta.

Note(s)This section has been translated automatically.

The syndrome was first described in 2 English families.

LiteratureThis section has been translated automatically.

  1. Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
  2. Clarke CA, McConnell RB (1954) Six cases of carcinoma of the oesophagus occurring in one family. Br Med J 2: 1137-1138
  3. Howel-Evans W, McConnell RB, Clarke CA, Sheppard PM (1958) Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. Quart J Med 27: 413-429
  4. Messmann H (2001) Squamous cell cancer of the oesophagus. Best Pract Res Clin Gastroenterol 15: 249-265
  5. Risk JM et al (1994) Tylosis oesophageal cancer mapped. Nature Genet 8: 319-321
  6. Risk JM et al (2002) Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Oncogene 21: 6395-6402
  7. Steijlen FM (1999) Palmoplantar keratoses. In: Traupe H, Hamm H (eds) Pediatric Dermatology, Springer Verlag Berlin Heidelberg New York, S. 76-77

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer