Abstract

Neurobromatosis (NF) is a multisystem disorder caused by a genetic mutation on chromosome 17. Neurobromatosis 1 is the form with the most characteristic ocular manifestations. Lisch Nodules of the iris are the well-known diagnostic criteria for the disease. Lisch nodules are usually seen at in young age. Our patient is an 8 years old female who presented with pain and swelling over the left chest and who showed features of neurobromatosis like cafe au lait spots and lisch nodules. Similar lesions were present in her mother. Lisch nodules are pathognomic of NF1 and should be differentiated from iris nevi observed in the general population. This disease is associated with increased morbidity and mortality. With an improved understanding of the disease and advancement in management, we can prevent complications.

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