Howel–Evans syndrome

Howel–Evans syndrome

Howel–Evans syndrome, also known as palmoplantar keratoderma with esophageal cancer, is a rare genetic disorder characterized by the development of thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) and an increased risk of developing esophageal cancer. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with Howel–Evans syndrome typically present with symptoms in early adulthood. The primary clinical features include:

• Palmoplantar keratoderma: Thickening of the skin on the palms and soles, which may be associated with pain and difficulty in walking or using the hands.
• Increased risk of esophageal cancer: Affected individuals have a significantly higher risk of developing squamous cell carcinoma of the esophagus, often in middle age.

Genetics

Howel–Evans syndrome is caused by mutations in the RHBDF2 gene, which is located on chromosome 17. The RHBDF2 gene is involved in the regulation of epidermal growth factor receptor (EGFR) signaling, which plays a crucial role in the maintenance and repair of the epidermis.

Diagnosis

The diagnosis of Howel–Evans syndrome is based on clinical evaluation, family history, and genetic testing. Key diagnostic criteria include:

• Presence of palmoplantar keratoderma
• Family history of similar skin changes and/or esophageal cancer
• Genetic testing confirming a mutation in the RHBDF2 gene

Management

Management of Howel–Evans syndrome involves regular monitoring and early detection of esophageal cancer. This may include:

• Regular endoscopic surveillance of the esophagus
• Treatment of palmoplantar keratoderma with topical keratolytics, emollients, and other supportive measures
• Genetic counseling for affected individuals and their families

Related Pages

• Palmoplantar keratoderma
• Esophageal cancer
• Autosomal dominant
• RHBDF2
• Epidermal growth factor receptor

See Also

• Genetic disorder
• Squamous cell carcinoma
• Epidermis