Encephalocraniocutaneous lipomatosis
Author(s) -
Ute Moog
Publication year - 2009
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmg.2009.066068
Subject(s) - proteus syndrome , lipomatosis , medicine , pathology , etiology , meninges , central nervous system , anatomy
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder of unknown aetiology. It has repeatedly been discussed as a localised form of Proteus syndrome. In 2006, the first large series of patients was reported, and diagnostic criteria were proposed.
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