schwannomatosis

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schwannomatosis

An inherited predisposition to develop benign tumours of the peripheral nerve sheath (OMIM:162091) that usually occur singly in otherwise normal individuals, which is regarded as a clinical entity distinct from other forms of neurofibromatosis.

Molecular pathology
Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex with key roles in cell proliferation and differentiation, cause schwannomatosis.

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References in periodicals archive ?

Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.

Epithelioid malignant peripheral nerve sheath tumor

More recently, somatic mutations with loss of heterozygosity in LZTR1 and germline loss-of-function variants in LZTR1 were respectively associated with glioblastoma multiforme [14] and schwannomatosis [15,16].

Further Evidence for the Implication of LZTR1, a Gene Not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

Schwannomas can be isolated sporadic lesions or associated with genetic syndromes such as schwannomatosis or neurofibromatosis (2,3).

Retroperitoneal Schwannoma: A Case Report / Retroperitoneal Schwannom: Bir Olgu Sunumu

In Schwannomatosis (neurilemmomatosis), multiple non-vestibular Schwannomas are observed with no other stigmatas of NF type 1 or NF type 2.

Isolated Schwannoma of the upper eyelid margin in a 50-year-old male

Neurofibromatosis (NF) is a group of rare genetic disorder of neural crest derived cells designated as neurofibromatosis type 1 (NF 1), neurofibromatosis type 2 and schwannomatosis.

Segmental neurofibromatosis: report of two cases of this rare entity and brief review of the literature

Schwannomas may occur in association with 2 syndromes, schwannomatosis and Carney complex.

Neurogenic Polyps of the Gastrointestinal Tract: A Clinicopathologic Review With Emphasis on Differential Diagnosis and Syndromic Associations

Another rarest variety of neurofibromatosis is Schwannomatosis characterized by intense pain.

Pregnancy with elephantiasis neurofibromatosa: with a good maternal and fetal outcome: a case report

The third one is called, Schwannomatosis that brings extreme pain.

Woman Suffering from 'Bubble Skin' Disease Disowned by Family, Fast Facts about Neurofibromatosis

Furthermore, there were no clinical stigmas or family history related to neurofibromatosis or schwannomatosis.

Intrascrotal extratesticular schwannoma: A first pediatric case

Multiple schwannomas are characteristic of Schwannomatosis (Neurofibromatosis 2).

Acquired segmental neuromas

Kaydie MacKay, from Woodchurch, was diagnosed with schwannomatosis in May, six years after doctors first found a tumour on her arm.

My PS1,000 dream in fight on illness

Schwannomatosis is a disease with multiple subcutaneous, peripheral nerve, and spinal schwannomas.

Painless cutaneous nodules: the lesions on the patient's body were getting caught on his clothes. He said that his mother and several of his siblings had similar "lumps."