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Y.H. Liang, M. Gao, L.D. Sun, L.J. Liu, Y. Cui, S. Yang, X. Fan, J. Wang, F.L. Xiao, X.J. Zhang, Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China, British Journal of Dermatology, Volume 153, Issue 6, 1 December 2005, Pages 1213–1215, https://doi.org/10.1111/j.1365-2133.2005.06960.x
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Extract
Conflicts of interest: None declared.
Multiple familial trichoepithelioma (MFT; OMIM 601606) is an autosomal dominant skin disease characterized by the presence of many small benign tumours with pilar differentiation predominantly on the face. Most cases of MFT have been reported in America and Europe. Mutations of the cylindromatosis (CYLD) gene have been identified as the cause of MFT. Loss of the deubiquitinating activity of CYLD correlates with tumorigenesis. We report two Chinese families with MFT, each with a novel mutation of CYLD, and present a literature review of MFT cases of Chinese origin reported since 1989. This review indicates that MFT is not an uncommon disorder in China.
Case and methods
Two multigeneration families with MFT including 12 affected and 46 unaffected individuals were identified through probands from Anhui province of China (Fig. 1). In each family, individuals belonging to three consecutive generations were similarly affected, and this indicated an autosomal dominant inheritance pattern. The age at onset varied from birth to 30 years. Examination showed numerous, dome‐shaped, firm skin‐coloured papules and nodules involving the nasal root, the medial part of the eyebrows, and the nasolabial folds. Lesional skin biopsy from the probands revealed the typical histopathological characteristics of trichoepithelioma. Blood samples were obtained from available family members and 96 unrelated controls.
