Brooke-spiegler syndrome Q85.8

Autosomal-dominantly inherited mutation of the Cylindroma gene(CYLD), which is located on gene locus 16q12-q13. The CYLD gene functions, among other things, as a tumour suppressor gene.

In addition to the turbantumors(cylindromas) which characterize the clinical picture, trichoepitheliomas, spiradenomas as well as combination tumors such as spiradenozylindromas may be found. Subtypes of the clinical picture may predominantly express trichoepitheliomas. This autosomal dominantly inherited clinical picture is referred to as Brooke syndrome (OMIM 601606, OMIM 612099). In these cases, the distinction from multiple familial trichoepithelioma syndrome becomes difficult (if there is a distinction at all).

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