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Newly delineated syndrome of c ongenital l ipomatous o vergrowth, v ascular malformations, and e pidermal nevi (CLOVE syndrome) in seven patients
Author(s) -
Sapp Julie C.,
Turner Joyce T.,
van de Kamp Jiddeke M.,
van Dijk Fleur S.,
Lowry R. Brian,
Biesecker Leslie G.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32023
Subject(s) - proteus syndrome , medicine , scoliosis , anatomy , pathology , dermatology , surgery
We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized phenotype comprises progressive, complex, and mixed truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged bony structures without progressive bony overgrowth. We have named this condition c ongenital l ipomatous o vergrowth, v ascular malformations, and e pidermal nevi (CLOVE syndrome) on a heuristic basis. In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome. © 2007 Wiley‐Liss, Inc.