Ear Deformity Due to Neurofibromatosis Type 1

Abstract

Neurofibromatosis is an autosomal dominant neurogenetic disorder. It is associated with significant morbidity and results in substantial loss of function as well as significant cosmetic problems. Elephantiasis neurofibromatosa is the most impressive manifestation of the disease because of its size. In this setting, the lesion leads to massive overgrowth of both the skin and the associated soft tissue, causing disturbing deformities. The reported patient had huge plexiform neurofibromas involving both the external right ear and neck regions. Deformed external ear and neck regions were restored surgically with satisfactory cosmetic results.

Staged Ear Transfer and Reconstruction in a Severe Case of Neurofibromatosis Type 1

“…Milder cases of external ear deformities associated with neurofibromatosis type 1 have been reported; these cases were caused by a direct mass effect on the ear and treated by excision of the neurofibroma and suspension. 4 , 5 In our case, it was extreme gravitational forces and tissue expansion that were responsible for the descent of the ear to the level of the clavicle.…”

Surgical Treatment of a Massive Neurofibroma of the Head and Neck in a Patient with Neurofibromatosis Type 1: A Case Report

“…Auxiliary examination plays an important role in diagnosing the disease and evaluating the surgical risk (Ergün et al;Sehgal et al, 2009).…”

“…Cutaneous neurofibroma is the primary condition that affects skin appearance. The overgrowth of related soft tissue leads to severe deformity, and it even affects the adjacent tissues and organs (Ergün et al, 2007). When a neurofibroma grows on the scalp, it can cause a fatal hemorrhage with an abundant blood supply.…”