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Segmental neurofibromatosis in children. Presentation of 43 patients

I. Pascual-Castroviejo, S.I. Pascual-Pascual, R. Velázquez-Fragua, J. Viaño, J.C. López-Gutiérrez [REV NEUROL 2008;47:399-403] PMID: 18937200 DOI: https://doi.org/10.33588/rn.4708.2008419

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Volumen 47 | Number 08 | Nº of views of the article 11.958 | Nº of PDF downloads 932 | Article publication date 16/10/2008

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ABSTRACT

INTRODUCTION It is known as segmental neurofibromatosis type 1 (NF1) a type of NF1 characterized by the features circumscribed to one or more body cutaneous and/or subcutaneous segments. This entity is recognized from recently and it is related with somatic mosaicism.

PATIENTS AND METHODS 43 patients (29 females and 14 males) with ages below 16 years were retrospectively studied. Image study of the affected region of the body was performed in all patients to discard a subjacent organic disease, and a neurofibroma was histollogicaly demonstrated in some cases. Somatic or gonosomal mosaicism was not investigated in any of the patients.

RESULTS Only 8 patients showed cutaneous lesion –7 with café-au-lait spots (3 of freckles type, 4 of large spots, of which, 3 were bilateral and 1 unilateral ) and 1 presented neurofibromas–. The other cases (81%) had cutaneous lesion with subjacent lesion (neurofibromas and bone dysplasia in most cases). The subcutaneous lesions were seen in all parts of the body without a preferent location. In cases with only cutaneous lesion, the clinical features were seen on the trunk skin. CONCLUSION. Segmental NF1 is considered to be the result of a somatic or gonosomal mosaicism and still is underdiagnosed. Features of segmental NF1 can be found in as many regions of the body as NF1 without mosaicism. The types of segmental NF1 that were seen less frequently in this series were those with only cutaneous features (café-au-lait spots and neurofibromas). Types with subcutaneous features that involved subjacent organs were seen in 81% of patients. Familial patients, with NF1 or segmental NF1 was shown in 15 patients (35%) and bilateral lesion in 4 cases (9.3%). KeywordsMosaicism Neurofibromas Neurofibromatosis type 1 (NF1)Plexiform neurofibromas Segmental NF1 CategoriesNeuropediatría

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Segmental neurofibromatosis in children. Presentation of 43 patients

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