Segmental neurofibromatosis with Lisch nodules

Neurofibromatosis (NF) is an inherited neuroectodermal abnormality that primarily affects the growth of neural tissues, and Riccardi classified it into eight types. Segmental neurofibromatosis, which is a rare form of neurofibromatosis, is classified as type 5. We report a case for very unusual presentation of segmental NF with unilateral lisch nodules and uncommon sites involving the scalp. Moreover, we could find only one case report of segmental NF with lisch nodules in the literature and could not find any case report involving the scalp.     

RAS/ERK信号通路在神经纤维瘤病中的研究进展

神经纤维瘤病(NF)是一种累及中枢及周围神经系统神经组织的遗传性疾病, 可分为1型神经纤维瘤病(NF1)、2型神经纤维瘤病(NF2)及神经鞘瘤病(SWN)。现有研究表明, 大鼠肉瘤蛋白/细胞外信号调节蛋白激酶(RAS/ERK)信号通路在许多类型肿瘤组织中存在异常表达。同时, 我们课题组在对家族性NF的前期实验研究中也发现相似结果。为进一步探索RAS/ERK信号通路与NF的联系, 笔者对NF中RAS/ERK信号通路的研究现况进行回顾并作出综述。     

Ambiguous genitalia,giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.     

Imaging diagnosis of plexiform neurofibroma- unravelling the confounding features: A report of two cases

Peripheral nerve sheath tumors such as neurofibroma, comprise 5% of all benign soft tissue tumors and usually occur due to an underlying neurofibromatosis. A plexiform neurofibroma, which is a tumor occurring exclusively in neurofibromatosis1, is a rare entity and is an uncommon variant of neurofibroma. We report the clinical and imaging features of plexiform neurofibroma in two young male patients, in whom the imaging diagnosis was confirmed after biopsy. The report not only aims to highlight the characteristic imaging features of plexiform neurofibroma but we also emphasize the ultrasound appearances which are significantly characteristic and can effectively lead to the correct diagnosis at the preliminary stage of investigation. The tumors which originate from nerve sheath, are large, lobulated masses and demonstrate typical imaging features of simultaneous involvement of subcutaneous and cutaneous tissues along with infiltrative invasion of deeper structures. The tumors characteristically display fat and fluid contents and a “target sign’ on evaluation by ultrasound, CT and MRI. Imaging plays an important role in confirming the diagnosis, delineating involved structures, excluding simulating conditions and forewarning a possible malignant transformation.     

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report

Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free who was referred to our institute with clitoromegaly and multiple café au lait spots on the skin. Clitoral mass excision was performed, and histopathology confirmed the diagnosis of clitoral plexiform neurofibroma as a primary presentation of Neurofibromatosis type I.