Cylindromatosis

Cylindromatosis is a rare genetic disorder characterized by the development of multiple benign skin tumors known as cylindromas. These tumors typically arise from the eccrine sweat glands and are most commonly found on the scalp and face. Cylindromatosis is also referred to as "turban tumor syndrome" due to the tendency of the tumors to coalesce and form large masses that can resemble a turban.

Genetics

Cylindromatosis 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. The condition is caused by mutations in the CYLD gene, which provides instructions for making a protein that helps regulate cell division and prevent cells from growing and dividing too rapidly or in an uncontrolled way.

Clinical Features

Individuals with cylindromatosis typically develop multiple, small, dome-shaped tumors on the scalp, face, and neck. These tumors are usually painless but can become tender or ulcerated. Over time, the tumors may merge to form larger masses, which can be disfiguring and may interfere with normal functions such as vision or hearing if they grow near the eyes or ears.

Diagnosis

The diagnosis of cylindromatosis is primarily based on clinical examination and family history. A skin biopsy can confirm the diagnosis by revealing the characteristic histological features of cylindromas. Genetic testing can identify mutations in the CYLD gene, which can help confirm the diagnosis and provide information for family planning.

Treatment

There is no cure for cylindromatosis, and treatment is primarily focused on managing symptoms and preventing complications. Surgical removal of the tumors is the most common treatment, although tumors may recur. Other treatment options include cryotherapy, laser therapy, and radiotherapy. Regular follow-up with a dermatologist is recommended to monitor for new tumor development and manage existing tumors.

Related Conditions

Cylindromatosis is part of a group of disorders known as CYLD cutaneous syndromes, which also includes Brooke-Spiegler syndrome and familial trichoepithelioma. These conditions share similar genetic causes and clinical features but may have distinct patterns of tumor development.

See Also

• Brooke-Spiegler syndrome
• Familial trichoepithelioma
• Eccrine sweat glands
• Autosomal dominant
• CYLD gene