Howel–Evans syndrome

Howel–Evans syndrome (pronunciation: HOW-el EV-ans sin-drome), also known as tylosis with oesophageal cancer or TOC, is a rare inherited medical condition.

Etymology

The syndrome is named after two British physicians, Howel and Evans, who first described the condition in 1958.

Definition

Howel–Evans syndrome is characterized by the development of thickened skin (tylosis) on the palms of the hands and soles of the feet, typically appearing in late childhood or early adolescence. Individuals with this syndrome have a significantly increased risk of developing oesophageal cancer.

Symptoms

The primary symptom of Howel–Evans syndrome is the thickening of the skin on the palms and soles, known as palmoplantar keratoderma. Other symptoms may include difficulty swallowing (dysphagia), chest pain, weight loss, and anemia.

Causes

Howel–Evans syndrome is caused by mutations in the RHBDF2 gene. It is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder to each of their children.

Diagnosis

Diagnosis of Howel–Evans syndrome is based on the presence of characteristic clinical features, a family history of the disorder, and may be confirmed by genetic testing.

Treatment

There is currently no cure for Howel–Evans syndrome. Treatment is focused on managing the symptoms and includes the use of emollients and keratolytics to manage skin thickening, and regular screening for oesophageal cancer.

Prognosis

The prognosis for individuals with Howel–Evans syndrome largely depends on the early detection and treatment of oesophageal cancer.

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Howel–Evans syndrome