Phacomatosis pigmentovascularis with a selective IgA deficiency.
We report a 1-year-old boy with an extensive cutaneous vascular malformation, oculocutaneous pigmentation, and severe neurologic abnormalities from birth, as well as a selective IgA deficiency. Ultrastructural study demonstrated prominent endothelial cells in the luminal of the blood vessels. The diagnosis of phacomatosis pigmentovascularis type IIb seemed appropriate for this patient.
de Luna
M L
ML
Department of Pediatric Dermatology, Buenos Aires University, Hospital General de Agudos Jose Maria Ramos Mejía, Argentina.
Barquin
M A
MA
Casas
J G
JG
Sidelsky
S
S
D000798:Angiomatosis / Q000473:pathology; D001808:Blood Vessels / Q000002:abnormalities*; D001927:Brain Diseases / Q000473:pathology; D004730:Endothelium, Vascular / Q000473:pathology; D005128:Eye Diseases / Q000473:pathology; D006801:Humans; D017098:IgA Deficiency / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D009508:Nevus, Pigmented / Q000473:pathology; D010859:Pigmentation Disorders / Q000473:pathology*; D012867:Skin / Q000098:blood supply*; D012878:Skin Neoplasms / Q000473:pathology