Neurofibromatosis type 1, sarcoidosis, and anterior uveitis: A simple coincidence or coexistence?—An interesting case report
Year: 2025
Type: article
Abstract: Type 1 neurofibromatosis (NF1) is an autosomal dominant multisystem disease caused by a mutation in the neurofibromin 1 gene, which affects tissues derived from the neural crest. Clinically, it is characterized by a spectrum of defects comprising of neural tumors, cafe-au-lait spots, intertriginous freckling, and skeletal defects. Sarcoidosis is a systemic disease of unknown etiology defined by the presence of noncaseating granulomatous inflammation and the most commonly involved organs are lungs and lymph nodes. But it can also affect the eyes, skin, heart, and other organs. There are clinical case reports, where various autoimmune diseases are associated with NF1 like—systemic lupus erythematosus (SLE), Hashimoto’s thyroiditis, diabetes mellitus, multiple sclerosis, vitiligo, and alopecia. A PubMed search of articles, indexed for MEDLINE using the terms sarcoidosis, anterior uveitis, and neurofibromatosis yielded no such published cases of patients having both sarcoidosis and NF1. We resent a case of neurofibromatosis type 1 in a middle-aged women who presented with anterior uveitis and diagnosed to have underlying pulmonary sarcoidosis. Now it is a rising question, whether neurofibromatosis, sarcoidosis, and anterior uveitis are just a simple coincidence or coexistence?
Source: Kerala Journal of Ophthalmology
Author: Sujit Das
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409623988