Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy

Summary Background and objective Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital café‐au‐lait macules (CALM) in Neurofibromatosis type 1 (NF1) patients have not been well characterized. We aimed to analyze the histopathological findings of la...

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Published in:Journal der Deutschen Dermatologischen Gesellschaft 2021-01, Vol.19 (1), p.73-80
Main Authors: García‐Martínez, Francisco Javier, Azorín, Daniel, Duat‐Rodríguez, Anna, Hernández‐Martín, Ángela
Format: Article
Language:English
Subjects:
Biopsy
Children
Cytology
Follicles
Genetic disorders
Hypertrichosis
Immunoreactivity
Mimicry
Neurofibromatosis
Neurological disorders
Plexiform neurofibroma
Recklinghausen's disease
Tumors
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Summary:Summary Background and objective Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital café‐au‐lait macules (CALM) in Neurofibromatosis type 1 (NF1) patients have not been well characterized. We aimed to analyze the histopathological findings of large “atypical” CALM in children with NF1. Patients and Methods In this retrospective observational study we analyzed histopathological and immunostaining features of 21 biopsy specimens from 18 large hyperpigmented macules with irregular borders with or without hypertrichosis present during the first months of life in NF1 diagnosed children. Results Of the 21 biopsies, ten showed a diffuse neurofibroma pattern and four exhibited characteristics of plexiform neurofibroma (PNF). In twelve specimens we observed groups of fusiform cells arranged linearly mimicking a small caliber nerve trunk with abnormal morphology. Repeated biopsies from two of these lesions performed at different ages showed transformation to a plexiform pattern. An increased interstitial cellularity was observed in 17 samples that was more evident around eccrine glands in 16 or accompanying hair follicles and vascular structures in twelve samples. All these cells had immunoreactivity for S100‐protein, CD68 and were Melan‐A positive in 15 samples. Conclusion Clinicopathological findings of congenital cutaneous neurofibromas provide early diagnostic clues of NF1 with high relevance for monitoring of these patients.
ISSN:1610-0379
1610-0387
DOI:10.1111/ddg.14322