Neurofibromatosis (NF) is a genetically inherited, autosomal dominant disease, characterized by multiple cafe au lait spots, cutaneous neurofibromas and "Lisch nodules." Neurofibromatosis can develop from a neural source at any age. However, neurofibroma of the larynx is extremely rare and is usually manifested by obstructive airway symptoms. We encountered a 5-year-old child presenting with stridor and dyspnea, who had a diagnosis of laryngeal plexiform neurofibroma. The purpose of our report is the consideration of laryngeal NF in the differential diagnosis of dyspnea in infants and children.
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http://dx.doi.org/10.1177/014556131309200619 | DOI Listing |
Arch Argent Pediatr
October 2024
Department of Endocrinology, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It is characterized by café-au-lait spots, melanocytic hamartomas of the iris, pseudo-freckles, neurofibromas, and tumor predisposition. The presence of neurofibromas in the thyroid gland is extremely rare.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
June 2023
Bombay Hospital Voice and Swallowing Centre, Bombay Hospital and Medical Research Centre, 2nd Floor MRC, Mumbai, Maharashtra 400020 India.
Solitary neurofibromas of the larynx occur sporadically and usually tend to involve the aryepiglottic folds. Non-plexiform variants of neurofibromas involving the glottis are extremely rare and may have defined margins versus plexiform subtype which are often unencapsulated and associated with Von Recklinghausen's disease. We report an unusual case of isolated glottic neurofibroma in an elderly male with gradually progressive hoarseness of voice with stroboscopy findings of a right unilateral, bulky subepithelial lesion mimicking a vocal fold cyst.
View Article and Find Full Text PDFArch Argent Pediatr
June 2023
Department of Respiratory Endoscopy, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors.
View Article and Find Full Text PDFTurk Arch Otorhinolaryngol
December 2021
Department of Pathobiology and Medical Diagnostic, University Malaysia Sabah, Sabah, Malaysia.
Plexiform neurofibroma represents an uncommon variant of neurofibromatosis type 1, constituting only 5%-30% of all cases. Plexiform neurofibroma is usually diagnosed during childhood and arises from multiple nerves, manifesting as bulging and deforming masses that can also involve connective tissue and skin folds. We report a case of a two-year-old girl who presented with worsening stridor since birth and later exhibited progressively increasing left neck swelling at the age of 10 months old.
View Article and Find Full Text PDFLaryngeal neurofibroma is a rare but important differential diagnosis in a patient presenting with stridor. In paediatric patients, these lesions present a management conundrum: complete surgical resection is the established treatment of choice, but an aggressive approach can be detrimental to developing anatomy. We report the case of a plexiform neurofibroma affecting the right hemilarynx of a 3-year-old boy.
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