Keratosis palmoplantaris with mutations in TOC

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: -

Entity described by

Howel-Evans 1958

Synonym (s)

Howel-Evans syndrome.

Keratoderma with oesophageal carcinoma.

Definition

Palmoplantar keratosis, which is associated with the development of oesophageal carcinoma.

Etiopathogenesis

Autosomal dominant inheritance.

Mutation in the TOC region (tylosis oesophageal cancer).

Clinical features

Palmoplantar hyperkeratosis.

Keratosis follicularis.

Development of oesophageal carcinoma.

Diagnosis

Anamnesis

Clinical

Genetic examination

Gastroenterology consult.

History

Familial occurrence of palmoplantar hyperkeratosis and oesophageal carcinoma?

Therapy

Keratolytic local therapy.

Regular care with lipid-replenishing extender.

Gastroenterological control for early detection of oesophageal carcinoma.

References

Lee ZE, Modiri A. Images in clinical medicine. Palmoplantar keratoderma associated with esophageal cancer. N Engl J Med. 2012 Dec 13;367(24):e35.
Kallini JR, Sadeghani K, Khachemoune A. Paraneoplastic palmoplantar keratoderma secondary to metastatic uterine adenocarcinoma. Cutis. 2017 Mar;99(3):E32-E35.