SEGMENTAL NEUROFIBROMATOSIS - REPORT OF 2 CASES AND CRITICAL-REVIEW OF THE LITERATURE

Within the group of neurofibromatoses, the segmental form (NF V) was i solated by Riccardi by virtue of a distinct clinical aspect. Sybsequen tly Roth suggested to broaden the diagnostic criteria in order to incl ude all atypical forms of NF V and Individualized four subsets: a pure ly segmental form a form with deep involvement, an hereditary form and a form with bilateral involvement. On the occasion of two new cases o f NF V we present a review of the relevant literature concerning 88 ca ses. These cases were first classified according to the criteria of Ro th; thereafter the validity of this classification was reappraised tak ing into consideration the problems left unresolved by the latter. Ind eed the existence of relative forms, the heterogeneity of clinical pre sentation and the uncertainties at the genetic level highlight the art ificial aspect of Roth's categorization; these issues prompt the autho rs to propose a different clinical consideration.