Chuang Chih-Chieh, Lin Hou-Chun
Division of Otolaryngology, Taipei Municipal Yang-Ming Hospital, Taipei, Taiwan, ROC.
J Chin Med Assoc. 2004 Dec;67(12):633-6.
Pilomatrixoma is a benign skin appendage tumor that commonly occurs as a solitary lesion and is not usually hereditary. There is evidence to suggest that patients with a family history of multiple pilomatrixomas have a high probability of autosomal dominant disorders such as myotonic dystrophy, Gardner syndrome, and Rubinstein-Taybi syndrome. In January 2004, a case was reported of an 8-year-old girl with 2 progressively enlarged facial masses. One of them was excised and diagnosed as pilomatrixoma. Coincidently, her 13-year-old sister had the same type of tumor when she was 4 years old. We report this unusual case and review the literature. Pilomatrixoma has not been widely reported in the head and neck surgery literature. This benign tumor may be misdiagnosed as a carcinoma, resulting in unnecessary aggressive therapy. Otolaryngologists should therefore note the clinical and pathologic characteristics of these symptoms.
毛发上皮瘤是一种良性皮肤附属器肿瘤，通常表现为单发损害，一般不具有遗传性。有证据表明，有多发毛发上皮瘤家族史的患者患常染色体显性疾病的概率较高，如强直性肌营养不良、加德纳综合征和鲁宾斯坦-泰比综合征。2004年1月，报告了1例8岁女孩，面部有2个逐渐增大的肿块。其中1个切除后诊断为毛发上皮瘤。巧合的是，她13岁的姐姐在4岁时也患过同一类型的肿瘤。我们报告这一罕见病例并复习相关文献。毛发上皮瘤在头颈外科文献中报道较少。这种良性肿瘤可能被误诊为癌，从而导致不必要的积极治疗。因此，耳鼻喉科医生应注意这些症状的临床和病理特征。
