Hwang Dong-Yeon, Yim Young-Min, Kwon Ho, Jung Sung-No
Department of Plastic Surgery, College of Medicine, Catholic University of Korea, Uijongbu, Korea.
J Craniofac Surg. 2008 Nov;19(6):1683-6. doi: 10.1097/SCS.0b013e31818971d1.
Epidermal inclusion cyst is one of the common benign soft tissue tumors, and it can be easily confirmed and treated by surgical excision. We experienced a patient who had multiple masses on the face and scalp region, and the masses had been misdiagnosed as neurofibromatosis because of accompanying mental retardation. We would like to introduce a case of clinical diagnosis error caused by the lack of radiologic evaluation and pathologic confirmation. A 27-year-old male patient visited with multiple masses, with a length of approximately 1 to 10 cm on the face and scalp region. These mass have developed since childhood without known etiology, and there has been no histologic examination or surgical excision done in the past. The patient's history of seizure disorder and mental retardation led the primary clinician to diagnose it as neurofibromatosis in the initial stage, and therefore, the clinician gave an advice on the possibility of frequent recurrence to the patient. As the masses increased in size, the patient came to our hospital after all. We found that the masses were soft and mobile through the physical examination, and magnetic resonance imaging showed evidence of epidermal inclusion cyst, which is distinguished from neurofibromatosis. Based on physical examination and magnetic resonance imaging, we performed total excision and biopsies. On the histologic examination, it was diagnosed as an epidermal inclusion cyst showing keratotic material internally, and the cyst wall was composed of lamellate keratin. The follow-up period was 12 months, and a recurrence has not occurred. The wound was healed without any specific complication, and both the patient and the guardian were satisfied with the physical enhancement. We have observed a misdiagnosed case that was misconceived by the situation, accompanying mental retardation. Due to this misconception, any surgical treatment was not performed at all, and the symptoms eventually worsened as multiple huge epidermal inclusion cysts. We present this case with a brief review of literature.
表皮样囊肿是常见的良性软组织肿瘤之一，通过手术切除很容易确诊和治疗。我们遇到一名患者，其面部和头皮区域有多个肿块，由于伴有智力发育迟缓，这些肿块曾被误诊为神经纤维瘤病。我们想介绍一例因缺乏影像学评估和病理确诊而导致临床诊断错误的病例。一名27岁男性患者因面部和头皮区域有多个肿块前来就诊，肿块大小约为1至10厘米。这些肿块自童年起就已出现，病因不明，过去未进行过组织学检查或手术切除。患者的癫痫病史和智力发育迟缓导致初级临床医生在初始阶段将其诊断为神经纤维瘤病，因此，临床医生向患者告知了频繁复发的可能性。随着肿块增大，患者最终前来我院。通过体格检查，我们发现肿块质地柔软且可活动，磁共振成像显示为表皮样囊肿，与神经纤维瘤病不同。基于体格检查和磁共振成像结果，我们进行了完整切除和活检。组织学检查显示，其被诊断为表皮样囊肿，内部可见角质物质，囊肿壁由层状角蛋白组成。随访期为12个月，未出现复发。伤口愈合良好，无任何特殊并发症，患者和监护人对身体状况的改善均感到满意。我们观察到一例因情况误解（伴有智力发育迟缓）而误诊的病例。由于这种误解，根本未进行任何手术治疗，症状最终因多个巨大的表皮样囊肿而恶化。我们现将此病例报告并简要回顾相关文献。
