CLOVES syndrome

CLOVES syndrome is an acronym denoting a rare condition consisting of:

  • Congenital Lipomatous Overgrowth
  • Vascular malformations
  • Epidermal nevi
  • Skeletal/Scoliosis/Spinal anomalies

Terminology

Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal abnormalities associated with the condition, is now preferred.

Pathology

The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. Abnormalities have a truncal predominance. Associated findings include:

  • truncal subcutaneous fatty overgrowth, most commonly located midline at the dorsal aspect of the chest
  • wide feet and hands
  • sandal gap deformity 
  • macrodactyly
  • scoliosis
  • enlarged peripheral nerves
  • CNS manifestations, including neuronal migration defects, hemimegalencephaly, ventriculomegaly, dysgenesis of the corpus callosum, tethered spinal cord, and neural tube defects
Genetics

It is associated with three different missense mutations in the PIK3CA gene .

Siehe auch:
und weiter: