Multiple familial trichoepitheliomas with a novel frameshift mutation in CYLD gene: a case report
Keywords:
Trichoepithelioma, multiple familial trichoepitheliomas, CYLD geneAbstract
Trichoepithelioma is a rare benign adnexal tumor. There are three clinical variants which are: solitary, multiple, and desmoplastic. Trichoepitheliomas affect middle-aged adults with a female predilection. Multiple trichoepitheliomas usually present as multiple small papules on the face, often involving the nasolabial folds. We report the case of a 70-year-old Thai woman presented with multiple skin-colored papules and nodules on scalp, forehead, nose, and both knees since she was 20 years old. Her family members also have similar skin lesions in the autosomal dominant pattern of inheritance. Genetic testing revealed novel heterozygous mutation in CYLD gene. Histopathology showed a well-circumscribed, dermal tumor composed of basaloid germinative epithelial cells arranged in a cribriform pattern within concentric fibroblast-rich stroma with papillary mesenchymal bodies. There are several keratin horn cysts embedded in the fibrotic stroma. She was diagnosed with Multiple familial trichoepitheliomas and subsequently treated with surgical excisions.
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เนื้อหาและข้อมูลในบทความที่ลงตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นข้อคิดเห็นและความรับผิดชอบของผู้เขียนบทความโดยตรงซึ่งกองบรรณาธิการวารสาร ไม่จำเป็นต้องเห็นด้วย หรือร่วมรับผิดชอบใดๆ
บทความ ข้อมูล เนื้อหา รูปภาพ ฯลฯ ที่ได้รับการตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นลิขสิทธิ์ของวารสารฯ หากบุคคลหรือหน่วยงานใดต้องการนำทั้งหมดหรือส่วนหนึ่งส่วนใดไปเผยแพร่ต่อหรือเพื่อกระทำการใดๆ จะต้องได้รับอนุญาตเป็นลายลักอักษรจากบรรณาธิการวารสารโรคผิวหนังก่อนเท่านั้น
