Keratosis palmoplantaris with esophageal carcinoma Q82.8

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

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

Definition
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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/Epidemiology
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Androtrophy.

Etiopathogenesis
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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.

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

Clinical features
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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.

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

Note(s)
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The syndrome was first described in 2 English families.

Literature
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  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

Incoming links (2)

Howel-evans syndrome; RHBDF2 Gene;

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020