Neurofibromatosis Type I Otological Manifestations: Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: Introduction: Neurofibromatosis type 1 is an autosomal dominant disease, classically caused by a single gene disorder. Its causative genetic defect is determined by a gene on chromosome 17 and is believed to manifest in neural crest cells, which in later stages contribute to the formation of the meninges, adrenal medulla, melanocytes, autonomic motor neurons and Schwann cells. [1] Clinical case: We present a 14-year-old girl with a history of neurifibromatosis type I, with stenosis of the external auditory canal of the left ear secondary to previous neurosurgical interventions. On physical examination, the patient presented a soft, diffuse tumor that affected the left pre- and post-auricular regions, as well as the entire pinna, which showed an anterior-inferior displacement. Stenosis of the external auditory canal. Multiple brown spots were seen on the trunk, neck and extremities, as well as ephelides in the axillary region and multiple neurofibromas, most of them on the head and upper extremities. Discussion: The treatment of neurofibromatosis type 1 must be individualized. It depends on the location of the tumor, whether it causes significant pain or disfigurement, whether it affects function, and its growth rate. Options range from observation, partial or total surgical resection, and the use of chemotherapy.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4401485407