DISEASE: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Entry
H01912 Disease
Name
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CLOVE syndrome
Description
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2C Overgrowth syndromes
H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06530 PI3K signaling
H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG
Title
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.
