Cankaya Hakan, Kösem Mustafa, Kiris Muzaffer, Uner Abdurrahman, Metin Ahmet
Department of Otolaryngology, H & N Surgery, Faculty of Medicine, Yüzüncü Yil University Tip Fakültesi, 65200 Van, Turkey.
Auris Nasus Larynx. 2002 Jul;29(3):313-6. doi: 10.1016/s0385-8146(02)00005-6.
Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, hypotrichosis, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair. While association of other ectodermal dysplasia syndromes with tumors such a non-Hodgkin's lymphoma, hamartoma, keratoakanthoma, Merkel-cell cancer, squamous-cell carcinoma, syringofibroadenomatosis has been reported, association of hypohidrotic ectodermal dysplasia and a tumor has not been reported. In a five-year-old male patient admitted with nasal obstruction and nasal mass complaints, we have reported firstly an association of hypohidrotic ectodermal dysplasia and nasopharyngeal rhabdomyosarcoma.
少汗型外胚层发育不良（克里斯 - 西门子 - 图赖讷综合征）的特征为汗腺部分或完全缺失、毛发稀少、牙齿发育不全、额嵴和下巴突出、鞍鼻、脸颊凹陷、嘴唇增厚外翻、耳朵大且毛发稀疏。虽然已有报道其他外胚层发育不良综合征与非霍奇金淋巴瘤、错构瘤、角化棘皮瘤、默克尔细胞癌、鳞状细胞癌、汗腺纤维腺瘤病等肿瘤相关，但少汗型外胚层发育不良与肿瘤的关联尚未见报道。在一名因鼻塞和鼻腔肿物主诉入院的5岁男性患者中，我们首次报道了少汗型外胚层发育不良与鼻咽横纹肌肉瘤的关联。
