Yesodharan Dhanya, Sudarsanan Bindu, Jojo Annie, Abraham Mohan, Bhavani Nisha, Mathews Hima, Nampoothiri Sheela
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India.
Department of Pediatric Surgery, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
J Pediatr Genet. 2017 Dec;6(4):244-246. doi: 10.1055/s-0037-1602789. Epub 2017 May 2.
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.
神经纤维瘤病在女性中最常见的生殖器表现是阴蒂肥大。我们报告一例1型神经纤维瘤病的5岁女孩,患有阴蒂丛状神经纤维瘤。进行了阴蒂成形术,组织病理学确诊了该诊断。虽然罕见,但在对阴蒂肥大的儿童进行详细检查之前,阴蒂丛状神经纤维瘤应始终被视为鉴别诊断之一。