CLOVES syndrome
CLOVES-Syndrom:
Großlumige, abdominell einmündende Marginalvene in der Phlebographie bei einem Patienten mit CLOVES-Syndrom. Diese Venen müssen verschlossen werden, da sie ein erhöhtes Risiko für Thromboembolie/Lungenembolie beinhalten.
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:
Assoziationen und Differentialdiagnosen zu CLOVES-Syndrom:
