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 histologically 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%).
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Pascual-Castroviejo I,Pascual-Pascual SI,Velázquez-Fragua R,Viaño J,López-Gutiérrez JCsubject
Has Abstractpub_date
2008-10-16 00:00:00pages
399-403issue
8eissn
0210-0010issn
1576-6578pii
rn2008419journal_volume
47pub_type
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