This autosomal dominant condition is characterized by skin fibrofolliculomas, lung cysts, and a predisposition to spontaneous pneumothorax. These patients are at increased risk of developing renal neoplasms, most commonly chromophobe and oncocytic hybrid Tumours. The gene responsible, FLCL, maps to chromosome 17 (Schmidt 2004).
Brooke–Spiegler Syndrome (Multiple Cylindromatosis)
This is an autosomal dominant condition. It is characterized by multiple benign Tumours of the skin appendages. These are smooth, dome-shaped, firm, pink Tumours of the head (turban Tumours), including syringomas and trichoepitheliomas and sometimes spiroadenomas, which develop from early adulthood and may be very disfiguring. Basal cell epitheliomas may develop in the lesions, and radiation therapy may exacerbate this tendency (Szepietowski et al. 2001; Welch et al. 1968).
The Tumours are of hairy skin and are not associated with basal or squamous cell carcinomas. The condition has been linked to chromosome 16q12–13 (Biggs et al. 1995; Fenske et al. 2000), and mutations in the CYLD gene have been identified as causing the condition. Genotype-phenotype correlations have not been described until recently when in a family with mild disease (where the Tumours tended to be small), the causative mutation was R758X in the CYLD gene (Oiso et al. 2004; Blake and Toro 2009). Loss of the cylindromatosis Tumours suppressor inhibits apoptosis by activating NF- kB. It has been suggested since aspirin also inhibits the action of NF-kB, it is a logical (topical) therapeutic agent for cylindromatosis, and phase 1 clinical trials of this are currently underway (Gutierrez et al. 2002; Bernends 2003; Brummelkamp et al. 2003; Lakhani 2004).
This rare condition, which can be inherited as an autosomal dominant trait, is characterized by diffuse nodular enlargement of the lower lip, with hypertrophy of the labial mucous glands, chronic inflammation, and dilatation of the excretory ducts. There is a high risk of squamous cell carcinoma of the lower lip (Vernia 2003).