CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families.

Autor: Carton de Tournai, D., Vandernoot, I., Marangoni, M., Faverly, D., Diaz, M., Casagranda, A., Berlingin, E., Van Maldergem, L.
Předmět:
Zdroj: Journal of the European Academy of Dermatology & Venereology; Jan2021, Vol. 35 Issue 1, pe81-e83, 3p
Abstrakt: Most of the patients carrying a CYLD mutation express more than one tumour.1 The common lesions are as follows: (i) cylindromas: benign, well-circumscribed, pinkish tumours of the scalp. Dermatol Clin 2017; 35: 61 - 71. 2 Parren LJMT, Giehl K, van Geel M, Frank J. Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. [Extracted from the article]
Databáze: Complementary Index