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Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014
Online ISSN 1827-1820
Richetta A., Giustini S., Bottoni U., Divona L., Villari P. *, Calvieri S.
Università degli Studi «La Sapienza» - Roma Istituto di Clinica Dermatologica e di *Igiene - Roma
Background. Neurofibromatosis type 1 (NF1) is a multisystemic disease with autosomic dominant trasmission characterized by a high clinical variability. In fact, it has been demonstrated that in the same family, relatives affected by NF1 may present more serious manifestations than other in which NF1 is not associated with any important diseases either neoplastic or not. The NF1 gene responsible of this disease, has been isolated by positional cloning. It spans over 350 kb of genomic DNA in chromosomal region 17q11.2; the protein encoded by NF1, neurofibromin, has a domain homologous to the GTPase activating protein (GAP) family and downregulates p21 ras activity. The variability of NF1 clinical manifestations related either to the age of the patients or to the different genetic alterations NF1 associated, can be responsible of the difficulties for NF1 diagnosis.
Methods. The study has been carried out on 206 patients affected by NF1 and 89 patients with uncertain NF1 diagnosis observed at the center for neurocutaneous diseases.
Results. In this study it was possible to observe either the more frequent complications or diseases rarely associated with NF1 such as melanoma and multiple sclerosis.
Conclusions. In personal opinion, NF1 gene alterations can not be referred to every clinical manifestation of NF1, but probably more genes are responsible of the multisystemic character of neurofibromatosis type 1.