From OMIMBrooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003).
Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).
Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene.
http://www.omim.org/entry/605041 From MedlinePlus GeneticsCYLD cutaneous syndrome is a genetic condition characterized by the growth of multiple noncancerous (benign) skin tumors. These tumors develop from structures associated with the skin (skin appendages), such as hair follicles. More than one type of skin tumor often develops, including benign growths called cylindromas, spiradenomas, and trichoepitheliomas. Cylindromas were previously thought to derive from sweat glands, but they are now generally believed to begin in hair follicles and often appear on the scalp. Spiradenomas are related to cylindromas and it is common to find features of both of these benign growths in a single tumor. Trichoepitheliomas arise from hair follicles and typically develop on the skin around the nose and upper lip.
While the skin tumors associated with CYLD cutaneous syndrome are typically benign, occasionally they may become cancerous (malignant). When becoming malignant, tumors often grow rapidly and become open sores (ulcers). Affected individuals are also at increased risk of developing tumors in structures other than skin; for example benign or malignant tumors of the salivary glands occur in some people with the condition.
People with CYLD cutaneous syndrome typically begin developing tumors in late childhood or in their teens. For reasons that are unclear, females with CYLD cutaneous syndrome tend to develop more tumors than males with this condition. Tumors tend to grow larger and increase in number over time. Large benign tumors may become ulcers and prone to infections. The tumors are most often found on the head and neck, including the scalp. Tumors that occur in the eyes, ears, nose, or mouth can affect the senses, including vision and hearing. Less frequently, tumors develop on the torso, armpits, or genitals. Genital tumors may cause pain and sexual dysfunction. Rarely, cylindromas develop in the airways and can cause problems with breathing (respiratory insufficiency).
The tumors in CYLD cutaneous syndrome can be disfiguring and may contribute to depression or other psychological problems.
CYLD cutaneous syndrome includes the conditions previously called Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. These conditions were once thought to be distinct disorders but are now considered to be the same condition.
https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome