Multiple familial trichoepithelioma

The Brooke- Spiegler syndrome ( Grundy Henry Ambrose Brooke, English dermatologist, Manchester, 1854-1919; Eduard Spiegler, an Austrian chemist and dermatologist, Vienna, 1860-1908 ) is a rare autosomal dominant hereditary disorder affecting the with a predisposition to development of tumors of the skin or skin appendages ( dermal cylindromas, Spiradenome, trichoblastomas or basal cell carcinoma ) is associated. In addition, these patients also exhibit an increased risk for the development of salivary gland tumors, such as adenocarcinomas of the Basalzelladenomen or parotid gland or small salivary glands.

Molecular Pathology

It is based on a mutation of the CYLD tumor suppressor gene on chromosome 16q12 - q13. CYLD engages in the NF-KB is a ( nuclear factor kappa B) and counteracts signal NF -kB activation. NF- kappa B in turn is an inducible transcription factor, which plays a key role in inflammation, immune response and oncogenesis. An NF- kappa B suppression leads inter alia to severe defects in the early stages of development of skin appendages such as hair follicles and sweat glands. However, the exact mechanism of CYLD - dependent tumorigenesis is still unknown.