Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Am J Med Genet A. 2007 Dec 15;143A(24):2944-58. doi: 10.1002/ajmg.a.32023.

Abstract

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 congenital lipomatous overgrowth, vascular malformations, and epidermal 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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Abnormalities, Multiple
  • Adipose Tissue / abnormalities*
  • Adolescent
  • Adult
  • Bone and Bones / pathology
  • Child
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Proteus Syndrome / diagnosis*
  • Scoliosis / diagnosis*
  • Syndrome
  • Terminology as Topic
  • Vascular Malformations / diagnosis*