PMID: 9420538Jan 8, 1998Paper

Skin abnormalities in neurofibromatosis 2

Archives of Dermatology
V F MautnerJ Gottschalk

Abstract

To determine the prevalence, distribution, and histopathological conditions of skin abnormalities in neurofibromatosis 2 (NF2). Case series. Hospital neurology department. Consecutive sample of 88 patients with NF2 referred through workshops and publications, genetic counseling, and referral from neurosurgical departments; 81 patients met the National Institutes of Health, Bethesda, Md, NF2 diagnostic criteria and the diagnosis was established by mutation or segregation analyses in 7 patients. Prevalence, distribution, and type of skin abnormalities; histopathological features of 29 skin tumors selected primarily for medical indications. Fifty-two patients (59.1%) had 458 skin tumors, which were the first presenting sign in 27.3% of patients and usually appeared as flat dysplastic tumors or subcutaneous spherical nodular tumors of the peripheral nerves, on the limbs and trunk. Although 29 patients (33.0%) had café au lait spots, only 2 patients had as many as 6 spots. compared with patients with milder disease, patients with more severe disease had a significantly greater prevalence of skin tumors (24.0% and 71.0%, P < .001), more than 10 skin tumors (0.0% and 27.4%, P = .004), flat dysplastic skin tumors (8.0% and 54.8%, P < ....Continue Reading

Citations

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