Poncet-Spiegler's cylindroma

Poncet-Spiegler's cylindroma, also known as "turban tumor syndrome," is a rare genetic condition characterized by the development of multiple benign skin tumors called cylindromas. These tumors primarily occur on the scalp and can sometimes cover the entire head, resembling a turban. This condition is part of a group of disorders known as the CYLD cutaneous syndromes.

Etiology

Poncet-Spiegler's cylindroma is caused by mutations in the CYLD gene, which is located on chromosome 16. The CYLD gene encodes a protein that acts as a tumor suppressor by regulating cell proliferation and apoptosis. Mutations in this gene lead to uncontrolled cell growth, resulting in the formation of cylindromas.

Clinical Features

The hallmark of Poncet-Spiegler's cylindroma is the presence of multiple cylindromas on the scalp. These tumors are typically:

• Benign: They are non-cancerous and do not metastasize.
• Slow-growing: They develop gradually over time.
• Dome-shaped: They have a characteristic rounded appearance.

In some cases, cylindromas may also appear on the face, neck, and trunk. The condition is usually diagnosed in adulthood, although tumors can begin to develop in adolescence.

Diagnosis

Diagnosis of Poncet-Spiegler's cylindroma is primarily clinical, based on the appearance and distribution of the tumors. A biopsy may be performed to confirm the diagnosis by examining the histological features of the tumor. Genetic testing can identify mutations in the CYLD gene, providing a definitive diagnosis.

Management

Management of Poncet-Spiegler's cylindroma focuses on the removal of tumors for cosmetic reasons or if they cause discomfort. Treatment options include:

• Surgical excision: Complete removal of the tumor.
• Laser therapy: Used to reduce the size of the tumors.
• Cryotherapy: Freezing the tumors to destroy them.

Regular follow-up is important to monitor for the development of new tumors.

Prognosis

The prognosis for individuals with Poncet-Spiegler's cylindroma is generally good, as the tumors are benign. However, the condition can have a significant impact on quality of life due to the cosmetic appearance of the tumors and the need for ongoing treatment.

Genetic Counseling

Poncet-Spiegler's cylindroma is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. Individuals with a family history of the condition may benefit from genetic counseling to understand their risk of passing the condition to their offspring.

See Also

• Brooke-Spiegler syndrome
• Trichoepithelioma
• Basal cell adenoma

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Poncet-Spiegler's cylindroma

Poncet-Spiegler's cylindroma is a rare disease.