Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas
Year: 2026
Type: article
Abstract: Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas ଝ Dear Editor,Multiple trichoepithelioma (MTE) is a rare autosomal dominant neoplasm characterized by multiple skin-colored papules, primarily on the face. 1 It is associated with mutations in the CYLD tumor suppressor gene and originates from the pilosebaceous unit. 2 Variant mutations in the CYLD gene are associated with diseases in the CYLD cutaneous spectrum, such as Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma.3 While familial cases predominate, de novo CYLD mutations are rarely documented, limiting genotype-phenotype correlations and genetic counselling guidance.Here, we report a case of multiple trichoepithelioma presenting with a new sporadic missense mutation in the CYLD gene.A 31-year-old woman presented with asymptomatic papular lesions on the nasolabial folds, nose, and forehead, which had first appeared during the first month of life and progressively increased in number over time (Fig. 1).Lesions began perinasally and later involved the scalp and extremities.No additional skin tumor, such as cylindroma or spiradenoma, was detected.The patient denied a family history of similar lesions, and there was no known consanguinity.Physical examination revealed multiple, firm, asymptomatic, skin-colored papular lesions of 0.2---0.4cm in diameter on bilateral nasal margins and forehead (Fig. 1).Multiple soft nodular lesions were observed on the occipital region and scalp (Fig. 2), along with a 1.4 cm nodule on the extensor surface of the right elbow and hyperkeratotic papules on the dorsum of the left toes.Dermatoscopic examination revealed a regular architecture with regular borders, thin, irregular vessels located peripherally, and opaque white areas on the lesion, which were suggestive of trichoepithelioma (Fig. 3).No dermoscopic signs of basal cell carcinoma (BCC) or sebaceous adenoma were present.Laboratory investigations showed no abnormalities.A punch
Authors: Ahmet Uğur Atılan, Niyazi Cetin
Institution: Pamukkale University
Language: English
Topic: Cancer and Skin Lesions
Subfield: Dermatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,700
OpenAlex ID: W7124294097