Segmental neurofibromatosis in children. Presentation of 43 patients]

Introduction. It is known as segmental neurofibromatosis type 1 (NFI) a type of NFI 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 cafe-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 oil the trunk skin. Conclusion. Segmental NFI is considered to be the result of a somatic or gonosomal mosaicism Mid still is underdiagnosed. Features of segmental NFI call be found in as many regions of the body as NFI without mosaicism. The types of segmental NFI that were seen less frequently in this series were those with only cutaneous features (cafe-au-lait spots and neurofibromas). Types with subcutaneous features that involved subjacent organs were seen in 81% of patients. Familial patients, with NFI or segmental NFI was shown in 15 patients (35%) and bilateral lesion in 4 cases (9.3%),