Phenotype and clinics | Brooke-Spiegler syndrome is a skin appendage tumors syndrome, with development of cylindromas, spiradenomas, and/or trichoepitheliomas, from late childhood, and gradually increase in size and numbers. Cylindromas are dermal papules and nodules. They grow slowly. They classically occur on the scalp and occasionally on the face, trunk or extremities. Scalp cylindromas can become numerous and may eventually cover the entire scalp ("turban tumors"). They present as multinodular, well circumscribed nest of undifferentiated basaloid cells in a charateristic "jigsaw puzzle" pattern. Spiradenomas are usually located on the face, the trunk and extremities. A frequent symptom is pain. They present as bluish nodules of basaloid cells in the dermis, with presence of numerous lymphocytes, in contrast to what is found in cylindromas. There are hybrid forms between cylindromas and spiradenomas. Trichoepitheliomas typically occur on the face, predominantly on the nose, the nasolabial folds, and the lips. Trichoepitheliomas derive from the trichoblast (i.e. the folliculo-sebaceous-apocrine germ). They are small skin-colored papules or nodules, with nests of basaloid cells forming cysts containing horn cells (with keratin) (Lee et al., 2005; Kim et al., 2007; Blake and Toro, 2009). |
Neoplastic risk | Apart from cylindromas, spiradenomas, and trichoepitheliomas, patients with Brooke-Spiegler syndrome are also at risk of basal cell carcinomas and syringomas. Cylindromas may transform into cylindrocarcinomas, which are locally aggressive and metastasize. Spiradenomas may transform into spiradenocarcinomas or show sarcomatous differentiation. An increased risk of developing tumors of the salivary glands has also been described (basal-cell adenomas and adenocarcinomas of the parotid glands and minor salivary glands) (Lee et al., 2005; Kim et al., 2007; Blake and Toro, 2009). |
Treatment | Removal by surgery. Salicylic acid is efficient in only a small proportion of tumours. |
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