Keratosis palmoplantaris with esophageal carcinoma Q82.8

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

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%.

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.

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.

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