#Bookshelf 2 skin#

At least two thirds of individuals with NF2 develop spinal tumors, which are often the most devastating and difficult to manage. Schwannomas may also develop on other cranial and peripheral nerves, with sensory nerves more frequently affected than motor nerves.Д¬hildren and young adults with an apparently isolated vestibular or other cranial nerve schwannoma should be considered at risk for de novo and often mosaic NF2. Significant facial palsy is rare even in large tumors. With time, vestibular tumors extend medially into the cerebellar pontine angle and, if left untreated, cause compression of the brain stem and hydrocephalus. Affected individuals often report difficulty in using the telephone in one ear or unsteadiness when walking at night or on uneven ground. Onset of disability is usually insidious, although occasionally hearing loss may occur suddenly, presumably as a result of vascular compromise by the tumor. Initial symptoms include tinnitus, hearing loss, and balance dysfunction.

#Bookshelf 2 skin#

The study did not include as a first symptom skin tumors or cataracts, either of which may be the earliest finding in children.Дetails of Typical Clinical Findings in NF2

Although individuals in this study were mostly adults, some children were included. The presenting symptoms of 120 individuals with NF2 studied by Evans et al in Great Britain are listed in Table 2. Д«ecause NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings may be the first manifestations. Survival is improving with earlier diagnosis and better treatment in specialty centers. Actuarial survival from the time of establishing the correct diagnosis is 15 years. Although these tumors are not malignant, their anatomic location and multiplicity lead to great morbidity and early mortality. Variable expressivity of NF2 among individuals results in varying size, location, and number of tumors. In addition to vestibular schwannoma, individuals with NF2 develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) astrocytomas. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. The average age of onset of findings in individuals with neurofibromatosis 2 (NF2) is 18 to 24 years (onset range: birth to 70 years). When the phenotypic and laboratory findings suggest the diagnosis of NF2, molecular genetic testing approaches can include single- gene testing, chromosomal microarray analysis (CMA), or use of a multigene panel: Because the phenotype of NF2 is broad, individuals with the distinctive findings described in Suggestive Findings and adults who meet the consensus diagnostic criteria described in Establishing the Diagnosis are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of NF2 has not been considered (especially in children) or those who do not fulfill the consensus diagnostic criteria are more likely to be diagnosed using genomic testing (see Option 2).

Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing ( chromosomal microarray analysis, exome sequencing, exome array, genome sequencing) depending on the phenotype. Surveillance: For affected or at-risk individuals: annual MRI beginning at approximately age ten to 12 years and continuing until at least the fourth decade of life hearing evaluation, including BAER testing annual complete eye examination.ДЄgents/circumstances to avoid: Radiation therapy of NF2-associated tumors, especially in childhood, when malignancy risks are likely to be substantially larger.Д®valuation of relatives at risk: Early identification of relatives who have inherited the family-specific NF2 pathogenic variant allows for appropriate surveillance, resulting in earlier detection and treatment of disease manifestations. Treatment for hearing loss includes referral to an audiologist, lip-reading and sign language instruction, and possibly hearing aids and/or cochlear or brain stem implants. Individuals with vestibular tumors need to be aware of insidious problems with balance and underwater disorientation, which can result in drowning. Treatment of manifestations: Treatment of vestibular schwannoma is primarily surgical stereotactic radiosurgery, most commonly with the gamma knife, may be an alternative to surgery.