Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy
| العنوان: | Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy |
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| المؤلفون: | Francisco Javier García-Martínez, Angela Hernández-Martín, Anna Duat-Rodríguez, Daniel Azorín |
| المصدر: | JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 19:73-80 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Hypertrichosis, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Plexiform neurofibroma, Biopsy, medicine, Humans, Neurofibromatosis, Child, Retrospective Studies, Neurofibroma, medicine.diagnostic_test, CD68, business.industry, Cafe-au-Lait Spots, Diffuse Neurofibroma, Infant, medicine.disease, Clinicopathological features, business, Immunostaining |
| الوصف: | Background and objective Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital cafe-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. |
| تدمد: | 1610-0387 1610-0379 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63dcf317690d7e4c46cd2c01bc27ec97Test https://doi.org/10.1111/ddg.14322Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....63dcf317690d7e4c46cd2c01bc27ec97 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16100387 16100379 |
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