Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas

• DOI: 10.1111/jdv.18190
• Publication Date: 2022-05-01T12:23:03Z
• Authors: A. Plana‐Pla; B. García; M. Munera‐Campos; N. Catasus; E. Serra Arenas; I. Blanco; E. Castellanos Perez; I. Bielsa
• Keywords: Plexiform neurofibroma; Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in nervous system. Cutaneous lesions are common and may provide useful diagnostic prognostic information, but they have not been widely studied.To characterize cutaneous Spanish cohort patients with NF2 investigate associations clinical severity.We studied histologic characteristics 49 analysed correlations phenotype- genotype-based severity scores. We collected information on presence/absence lesions, location, age at onset, lesion, features. also level systemic involvement mutations involved.Forty-nine (31 women [63.3%] 18 men [36.7%]) were analysed, 33 (67.3%) had presumed to be schwannomas. According their form, distributed as follows: 24 (48%) deep tumours, 21 (42%) plaque-like 3 (6%) superficial tumours. Histologic examination from 27 out 23 showed classic schwannoma or hybrid schwannoma-neurofibroma features 8 biopsied plexiform 17 analysed. Early onset (first decades life) was reported all plaques In our cohort, 100% microscopic groups most severe phenotypes, 82.6% them classes.Cutaneous specially schwannomas, NF2, usually appear an early providing information. These part spectrum manifestations this disease. Although its value has pointed out, there few studies focussed analysis.