Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.
We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.
Rizzo
R
R
Pediatric Clinic, Catania University, Italy.
Pavone
L
L
Micali
G
G
Nigro
F
F
Cohen
M M
MM
D000293:Adolescent; D001927:Brain Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008068:Lipomatosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D016715:Proteus Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012871:Skin Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology