Age at Diagnosis of Neurofibromatosis 1: An Audit of Practice

Abecassis, S.; Bastuji‐Garin, Sylvie; Khosrotehrani, Kiarash; Zeller, J; Revuz, J; Wolkenstein, Pierre

doi:10.1159/000116622

Cited by 3 publications

(1 citation statement)

References 7 publications

(9 reference statements)

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“…Because type I neurofibromatosis is usually diagnosed at a young age 23 and glomus tumors typically occur in adults, it is unlikely that the surgeon will see a patient with a glomus tumor who has undiagnosed neurofibromatosis. However, this clinical scenario can occur, and glomus tumors in patients with type I neurofibromatosis in the pediatric population have been described.…”

Section: Discussionmentioning

confidence: 99%

Glomus Tumors and Neurofibromatosis

Harrison

Sammer

2014

Plastic and Reconstructive Surgery Global Open

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Background:Glomus tumors are painful benign tumors arising from the neuromyoarterial elements of the glomus body, typically in a subungual location. Historically, glomus tumors have been considered isolated or sporadic, not typically associated with other disease processes. Over the last few years, however, multiple case reports, a molecular genetics study, and an epidemiologic study have confirmed an association between type I neurofibromatosis and glomus tumors. The purpose of this review is to summarize the existing information about the association between neurofibromatosis and glomus tumors and to determine whether glomus tumors that are associated with neurofibromatosis differ from isolated glomus tumors in terms of tumor number, location, and sex distribution.Methods:A PubMed, Ovid Medline, and Cochrane Database search was performed using the terms “glomus tumor,” “glomus tumour,” and “glomangioma” each combined with the search term “neurofibromatosis.” Fifteen English language articles were included. Information about the molecular genetics, patient sex, number of tumors per patient, and tumor location were recorded.Results:A total of 36 patients with glomus tumors and neurofibromatosis have been reported in the literature. Seventy-nine percent were female. Tumors were multifocal in 32% of patients, with an average of 1.4 glomus tumors per patient. Glomus tumors arose in a nonsubungual location in 38% of patients.Conclusions:A strong association between type I neurofibromatosis and glomus tumors has been identified. In neurofibromatosis patients with glomus tumors, the sex distribution, tumor location, and tumor burden appear similar to those in patients with isolated glomus tumors. Treating providers should be aware of this association to facilitate prompt diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

Glomus Tumors and Neurofibromatosis

Harrison

Sammer

2014

Plastic and Reconstructive Surgery Global Open

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Caring for the Pregnant Woman With Neurofibromatosis

Gresham

Braunlin²,

Vuckovich³

2010

McN: The American Journal of Maternal/Child Nursing

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Neurofibromatosis (NF) is one of the most common inherited single-gene disorders in humans, and is expressed as two distinct types: Type I (von Recklinghausen disease) and Type II, which occurs much less frequently. When it was first reported in the obstetric literature in 1906 by Brickner, neurofibromatosis was called "fibroma moluscum contagiosum." This article presents a case of a 20-year-old woman with NF Type I who became pregnant. The clinical challenges of NF and pregnancy are explored through the collaborative relationships between the patient and two clinical nurse specialists from obstetric and neuroscience nursing. The case study provides valuable information for nurses who want to provide evidence-based care.

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Early Diagnosis and Intervention for Airway-Obstructing Neonatal Plexiform Neurofirbomatosis

Day

Roward

Gillispie

et al. 2020

Journal of Craniofacial Surgery

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Background: Respiratory distress is a frequent occurrence in neonates, typically caused by a variety of pulmonary conditions. Accurate diagnosis of the cause is vital to appropriately treat neonates and prevent long-term complications. Neck masses rarely cause respiratory distress in this setting but should be considered when clinical signs indicate. Methods: The authors present the patient with a neonate born at term who developed stertor, respiratory distress requiring intubation, and repeated failure to extubate. Results: Physical examination showed right-sided lower and midface enlargement with a firm mass mostly over the parotid and right neck. Both computerized and magnetic resonance tomography demonstrated a right-sided neck mass. Surgical exploration revealed extensive tumor burden emanating from the great auricular, hypoglossal, and other nerves of the neck, including invasion of the carotid sheath encasing the artery. Excisional biopsy showed plexiform neurofibroma, and pathognomonic for neurofibromatosis type 1. The decision was made to pursue medical management, as complete excision would have resulted in increased morbidity due to the involvement of multiple cranial nerves. The patient underwent microlaryngoscopy, bronchoscopy, and tracheostomy and was started on Trametinib chemotherapy. Conclusion: Neonatal airway obstruction can rarely be caused by unanticipated mass lesion, such as plexiform neurofibroma. A high index of suspicion must be maintained for early onset mass lesions causing respiratory obstruction to inhibit early disease progression and avoid potentially fatal sequelae.

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Age at Diagnosis of Neurofibromatosis 1: An Audit of Practice

Cited by 3 publications

References 7 publications

Glomus Tumors and Neurofibromatosis

Glomus Tumors and Neurofibromatosis

Caring for the Pregnant Woman With Neurofibromatosis

Early Diagnosis and Intervention for Airway-Obstructing Neonatal Plexiform Neurofirbomatosis

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