Search results for "melanocytosis"
showing 3 items of 3 documents
Chromatic-achromatic perimetry in four clinic cases: Glaucoma and diabetes
2015
Color perimetry has interesting clinical application for the diagnosis and detection of certain eye conditions, due to the variations that certain diseases can cause in chromatic thresholds, both in the red-green (RG) and the blue-yellow (BY) pathways.[1,2,3,4] The separate study of the visual function of both the chromatic and achromatic mechanisms could be more efficient in detecting sensitivity variations, and such variations would not be obscured by the intrusion of other mechanisms. Currently, the supply of conventional perimeters that are capable of performing a chromatic perimetry test is very limited and with reduced options regarding the possibility of choosing the physical charact…
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis
2016
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were det…
Phenotypic and genotypic characterization of extensive dermal melanocytosis: co24
2016
International audience