Sethi Neha K, Chadha Charu, Goyal Sumit, Kaur Manpreet
Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Department of Ophthalmology, Subdivisional Hospital, Moonak, Sangrur, Punjab, India.
J Family Med Prim Care. 2022 May;11(5):2252-2255. doi: 10.4103/jfmpc.jfmpc_1933_21. Epub 2022 May 14.
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family ( = 3). Skin manifestations were present in all the patients. The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion.
1型神经纤维瘤病（NF1）或冯·雷克林豪森病属于一组称为错构瘤病的多系统遗传性综合征。它表现为皮肤、眼科、骨骼和全身表现。我们展示了一个家族中（n = 3）有充分照片记录的NF病例系列。所有患者均有皮肤表现。眼科表现为Lisch结节（100%的眼睛）、眼睑皮下神经纤维瘤（33%的眼睛）、机械性上睑下垂（33%的眼睛）和机械性睑外翻（16.5%的眼睛）。我们报告了罕见的多发性孤立性神经纤维瘤导致机械性上睑下垂和机械性睑外翻的情况。
