Massive Plexiform Neurofibroma of the Neck and Larynx

Mobashir, Mohammad; Mohamed, Abd ElRaof Said; El‐Anwar, Mohammad Waheed; Sayed, Ahmad Ebrahim El; Fouad, Mouhamad A.

doi:10.1055/s-0034-1396793

Cited by 16 publications

(18 citation statements)

References 13 publications

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“…Laryngeal neurofibromas are most commonly found in the supraglottic region because of rich terminal nerve plexus. 4 Neurofibromas are divided into two subtypes plexiform and non plexiform. The plexiform variety is associated with neurofibromatosis type 1, is locally aggressive with surrounding infiltration making dissection difficult whereas non plexiform types are discrete, well defined and amenable to complete excision as in our case report.…”

Section: Discussionmentioning

confidence: 99%

Isolated paraglottic neurofibroma; lateral thyrotomy approach: a case report

Naik

Lambor

Shetgaunkar

2018

Int J Otorhinolaryngol Head Neck Surg

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Isolated neurofibromas are rare tumours of the paraglottic space. A 59 year old lady presented with progressive hoarseness for 5 years. Examination revealed a smooth submucosal globular mass in the glottosupraglottic region on the left side. After confirming findings on a contrast CT scan lateral thyrotomy approach was employed to excise the tumour in toto. Histopathology revealed a neurofibroma. Further workup to exclude neurofibromatosis (NF1) was done. Isolated laryngeal neurofibromas present a challenge to surgeons for providing complete excision of tumour while giving a good voice quality and lateral thyrotomy approach is the ideal approach for satisfying both these parameters.

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Section: Discussionmentioning

confidence: 99%

Isolated paraglottic neurofibroma; lateral thyrotomy approach: a case report

Naik

Lambor

Shetgaunkar

2018

Int J Otorhinolaryngol Head Neck Surg

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“…Es sind aber auch isolierte Kehlkopfmanifestation beschrieben. Neurofibrome machen 0,05 % der gutartigen Larynxtumoren aus [150]. Die Klinik ist abhängig von der Größe und der Lokalisation der Befunde.…”

Section: Klinisches Erscheinungsbildunclassified

Seltene Erkrankungen des Larynx, der Trachea und der Schilddrüse

Hackenberg¹,

Kraus²,

Scherzad³

2021

Laryngorhinootologie

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ZusammenfassungDer Übersichtsartikel beinhaltet eine Zusammenstellung seltener Erkrankungen von Larynx, Trachea und Schilddrüse. Im Speziellen werden angeborene Fehlbildungen, seltene Formen der entzündlichen Larynxerkrankungen, gutartige und bösartige epitheliale sowie nicht-epitheliale Tumoren, laryngeale und tracheale Manifestationen von Allgemeinerkrankungen und schließlich seltene Erkrankungen der Schilddrüse besprochen. Die einzelnen Kapitel beinhalten eine Übersicht über die Datenlage in der Literatur, das jeweilige klinische Erscheinungsbild, wichtige Stichpunkte zur Diagnostik und zur Therapie und eine abschließende Stellungnahme zur Prognose der Erkrankung. Des Weiteren finden sich Hinweise zu Studienregistern und Selbsthilfegruppen.

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“…) are sometimes described as ‘elephantiasis neuromatosa’ . Moreover, T2SM may involve the brain, eye and orbita, bones and joints, parotis, thyroid, larynx, trachea, lung, heart, oesophagus, upper gastro‐intestinal tract (Fig. ), rectum, liver, gall bladder, pancreas, retroperitoneum and bladder …”

Section: Autosomal Dominant Disorders Characterized By Multiple Skin mentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Massive Plexiform Neurofibroma of the Neck and Larynx

Cited by 16 publications

References 13 publications

Isolated paraglottic neurofibroma; lateral thyrotomy approach: a case report

Isolated paraglottic neurofibroma; lateral thyrotomy approach: a case report

Seltene Erkrankungen des Larynx, der Trachea und der Schilddrüse

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

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