Surgical treatment of a massive neurofibroma of the head and neck in a patient with neurofibromatosis type 1: a case report / Tratamiento quirúrgico de un neurofibroma masivo de cabeza y cuello en un paciente con neurofibromatosis tipo 1: reporte de un caso
Int. j. morphol
;
36(1): 194-200, Mar. 2018. tab, graf
Article
in English
| LILACS
| ID: biblio-893210
ABSTRACT
SUMMARY:
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant neurogenetic disease with variable clinical manifestations, which are primarily manifested as neurofibromas, café-au-lait macules (CALMs) and skeletal deformities. Although generally benign, expansile neurofibromas that are characteristic of NF1 readily lead to disturbing deformities. It is often difficult to surgically extirpate a tumor that involves these important tissues or organs. We report a rare case of a patient with neurofibromatosis Type 1. The patient presented with a congenital giant scalp neurofibroma and CALMs in the occipito-cervical region, in addition to ear and occipital deformities. We performed a challenging surgical intervention (a near-total resection) to reduce the tumor burden and rehabilitate the appearance and function of the patient while preserving the intracranial tissue structure. Here, we review this case and analyze the clinical manifestations, diagnosis and management of NF1.RESUMEN
RESUMEN La neurofibromatosis tipo 1 (NF1) es una rara enfermedad neurogenética autosómica dominante, con manifestaciones clínicas variables, que se manifiestan principalmente como neurofibromas, máculas café con leche (CALM) y deformidades esqueléticas. Generalmente los neurofibromas expansivos benignos que son característicos de NF1 conducen fácilmente a deformidades exageradas. A menudo es difícil extirpar quirúrgicamente un tumor que involucra estos tejidos u órganos importantes. Presentamos un caso raro de un paciente con neurofibromatosis tipo 1. La paciente presentó un neurofibroma congénito gigante del cuero cabelludo y CALM en la región occipitocervical, además de deformidades del oido y región occipital. Realizamos una intervención quirúrgica desafiante (una resección casi total) para reducir la carga tumoral y rehabilitar la apariencia y función de la paciente mientras se preservó la estructura del tejido intracraneal. Aquí, revisamos este caso y analizamos las manifestaciones clínicas, el diagnóstico y el tratamiento de NF1.
Full text:
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Index:
LILACS (Americas)
Main subject:
Neurofibromatosis 1
/
Head and Neck Neoplasms
Limits:
Adult
/
Female
/
Humans
Language:
English
Journal:
Int. j. morphol
Journal subject:
Anatomy
Year:
2018
Type:
Article
/
Project document
Affiliation country:
China
Institution/Affiliation country:
Jilin University/CN
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