Koti Kalyan, Bhimireddy Vijayalakshmi, Dandamudi Srinivas, Gunnamreddy Ramanareddy
Department of Pathology, NRI Medical College and General Hospital, Guntur District, Andhra Pradesh, India.
Indian J Dermatol. 2013 May;58(3):232-4. doi: 10.4103/0019-5154.110835.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. The exact pathogenesis is still not known. We present the third case from the Indian subcontinent, who is a five year old girl with history of right sided seizures. Dermatological examination showed alopecia on right side of the scalp and ipsilateral limbal dermoid and nodular skin tags over the upper eyelid. The computerized tomography scan of the brain revealed porencephalic cyst, cerebral calcifications and atrophy of right brain. The histopathology of the skin lesions showed lipomatous hamartoma and features of non scarring alopecia. The constellation of these findings and in adherence to the diagnostic criteria of ECCL proposed in 2009, we consider this report as a definite case of ECCL.
脑颅皮肤脂肪瘤病（ECCL）是一种罕见的散发性神经皮肤综合征，其特征为中枢神经系统、眼部及皮肤存在异常。确切的发病机制尚不清楚。我们报告来自印度次大陆的第三例病例，是一名5岁女童，有右侧癫痫发作史。皮肤科检查显示头皮右侧脱发，同侧角膜皮样囊肿及上睑有结节状皮肤赘生物。脑部计算机断层扫描显示脑穿通畸形囊肿、脑钙化及右脑萎缩。皮肤病变的组织病理学显示脂肪瘤性错构瘤及非瘢痕性脱发特征。基于这些发现以及遵循2009年提出的ECCL诊断标准，我们认为本报告为ECCL确诊病例。
