FaCD Online Syndrome Fact Sheet

Last updated: 27 Feb 2008

Name: Multiple Trichoepithelioma, Familial

Mode of Inheritance: AD

Genes

CYLD, mapped to 16q12-q13
MFT#, mapped to 9p21

Tumor features

trichoepithelioma
trichoepithelioma, malignant

Tumor features (possible)

eccrine spiradenoma
malignant lymphoepithelial lesion (MLEL) of the parotid glands

Comment

In addition to sporadic cases, multiple trichoepitheliomas can be inherited as an autosomal dominant trait. Harada et al.[1] mapped the gene to 9p21, a region distinct from that found in linkage studies of hereditary multiple benign cystic epithelioma (cylindromatosis) , a disorder which may show co-occurrence of trichoepitheliomas and cylindromas (Brooke-Spiegler variant). Schramm et al.[2] reported the association of multiple familial trichoepitheliomas with multiple spiradenomas. Autio-Harmainen et al.[3] described the familial occurrence of a malignant lymphoepithelial lesion of the parotid gland in a Finish family with dominantly inherited trichoepithelioma. In rare cases the trichoepitheliomas may show malignant transformation[6]. CYLD mutations have been observed in families with this disorder, underlining the fact that it is a variant of Cylindromatosis [4,5].

References

[1] Harada H, Hashimoto K, Ko MSH. The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol 107[1], 41-43. 1996.
[2] Schramm M, Blume-Peytavi U, Kruger K, Gollnick H. A rare association of multiple hereditary trichoepitheliomas with multiple spiradenomas. Eur J Dermatol 6[4], 259-261. 1996.
[3] Autio-Harmainen H, Paakko P, Alavaikko M, Karvonen J, Leisti J. Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. Cancer 1988; 61:161-166.
[4] Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clinical genetics 2006; 70(3):246-9.
[5] Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. The Journal of investigative dermatology 2005; 124(5):919-20.
[6] Lee KH, Kim JE, Cho BK, Kim YC, Park CJ. Malignant transformation of multiple familial trichoepithelioma: case report and literature review. Acta dermato-venereologica 2008; 88(1):43-6.