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Dysphagia in a patient with palmoplantar keratoderma

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Q1: What is the diagnosis?

Tylosis (palmoplantar keratoderma).

Q2: How is it inherited?

Autosomal dominant.

Q3: What is the major complication?

Oesophageal carcinoma.


Tylosis is a rare hyperkeratotic condition characterised by thickening of the skin1 in those areas exposed to pressure and or friction as seen on the skin of the palms and soles (fig 1; see p 667). The condition is associated with itching and painful deep fissures. Family pedigrees indicate an autosomal dominant transmission pattern with a high degree of penetrance. There seems to be two forms of inherited tylosis: type A has a variable age of onset from 5 to 15 years; type B is manifested in the first year of life.2The types run true in families and are not sex linked. Members of those families affected with tylosis have at least a 60% risk of oesophageal carcinoma by age 60 years.3 The paired conditions tylosis and oesophageal carcinoma are probably controlled at a single genetic locus.

Pathogenesis of tylosis

The actual pathological state maybe mediated through an increase in epidermal growth factor receptors (EGFRs) in the abnormal tissues.4 EGFRs have been found at increased levels in many malignant tumours but especially squamous cell carcinomas of the lung and oesophagus.5

Because of the high risk of oesophageal carcinoma patients with tylosis require counselling and support. Obtaining a family history and pedigree is important in order to trace family members who may be unknown to the medical profession. Patients with this condition should be referred for specialist investigation for genetic evaluation.

When and how frequently these patients should undergo gastroscopy is presently unknown. In addition it is also unknown if modifying habits such as cessation of smoking and alcohol intake, prophylaxis with vitamin A, and treatment with proton pump inhibitors decrease the incidence of oesophageal carcinoma. It would seem logical for patients with tylosis to avoid other predisposing forces to oesophageal carcinoma—for example, mutagens (nitroso compounds, tannin from cigarettes) and promoters (phorbol esters present in some alcoholic beverages). If oesophagitis is one of the sequential steps in development of oesophageal carcinoma in patients with tylosis, then lifelong treatment with a proton pump inhibitor might well have a significant impact on oesophageal carcinoma developing.

Final diagnosis

Tylosis (palmoplantar keratoderma).


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