Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

摘要

The clinical and pathogenetic classification of encephalocraniocu-taneous lipomatosis (ECCL), oculoectodermal syndrome (OES), and oculocerebrocutaneous syndrome (OCCS) and their possible relationship have been recently discussed in two issues of this journal [Hunter, 2006; Ardinger et al., 2007; Moog et al., 2007a,b]. These syndromes share common features but the presence of nevus psiloliparus (NPL) as well as major brain, skin, and eye criteria distinguishes ECCL from OES and OCCS [Hunter, 2006; Ardinger et al., 2007]. These disorders are mainly sporadic and are thought to be the result of somatic mutation(s) or the expression of rare tumor predisposition syndrome(s) [Toriello et al., 1993; Federici et al., 2004; Hunter, 2006; Moog et al., 2007b].