Abstract：
Neurofibroma is an autosomal benign disorder. It can be localized, diffuse or invasive like plexiform neurofibroma that involves the nerves, muscle, tissues, skeleton. It represents itself as a destructive variant of neurofibroma, mostly present as orbital or periorbital neurofibroma or may be associated with autosomal dominant disease. Clinical diagnosis of neurofibromatosis (NF) according to National Institutes of Health (NIH) criteria should have more than two of the seven features including lisch nodules, cafe\'- au-lait spots, plexiform neurofibroma, optic glioma, freckling, first degree relative with NF or dysplasia of cortical bones. However, proper early diagnosis is still crucial due to its various presentation such as cheek mass, painless swelling on skin, chalazion, intratracheal tumor, genital swelling or ptosis. It is reported that neurofibroma often represents as ocular or facial swelling. Here we are presenting features of neurofibroma of eight cases of patients from Civil Hospital, Karachi. These cases had main complain of overhanging skin mass mainly on orbital or periorbital region that damage the area and with poor daily activities. Multiple nodules on face and body along with them Cafe\'-au-lait spots and lisch nodules were main signs. While, other signs i.e. ptosis, pterygium, telecanthus and muddy discoloration of conjunctiva need further evaluation for correlation with neurofibromatosis. Debulking surgery was planned for most of the cases but the huge disfigurement caused by overhanging skin mass and nodules made it a challenge for plastic surgeons to provide good outcomes with minimum damage. Keywords: neurofibroma; lisch nodules; ptosis; Cafe\'-au-lait spot; periorbital; overhanging skin.
摘要：
神经纤维瘤是一种常染色体良性疾病。它可以本地化，弥漫性或侵袭性，如累及神经的丛状神经纤维瘤，肌肉，组织，骨架。它代表了神经纤维瘤的破坏性变体，主要表现为眼眶或眶周神经纤维瘤或可能与常染色体显性疾病有关。根据美国国立卫生研究院（NIH）标准，神经纤维瘤病（NF）的临床诊断应具有七个特征中的两个以上，包括结节，cafe\'-au-lait斑点,丛状神经纤维瘤,视神经胶质瘤,雀斑,与NF或皮质骨发育不良的一级相对。然而,正确的早期诊断仍然是至关重要的，因为它的各种表现，如脸颊肿块，皮肤无痛肿胀，chalazion,气管内肿瘤，生殖器肿胀或下垂。据报道，神经纤维瘤通常表现为眼部或面部肿胀。在这里，我们介绍了来自民用医院的8例患者的神经纤维瘤的特征，卡拉奇.这些病例的主要抱怨是突出的皮肤肿块主要在眼眶或眶周区域，损害了该区域，并且日常活动不佳。面部和身体上的多个结节以及它们的Cafe\'-Au-lait斑点和浅裂结节是主要体征。同时,其他迹象，即下垂，翼状胬肉,远视和结膜的浑浊变色需要进一步评估与神经纤维瘤病的相关性。大多数情况下都计划进行膨化手术，但是由于悬垂的皮肤肿块和结节引起的巨大毁容使整形外科医生在最小损伤的情况下提供良好的结果是一个挑战。关键词：神经纤维瘤;李奇结节;上睑下垂;咖啡厅黑斑;眶周;悬垂皮肤。
