Phacomatosis pigmentovascularis (PPV)
Evidence-based neurology checklist on phacomatosis pigmentovascularis (ppv): Genetics and pathology This is caused by mutations in the GNA11 and GNAQ gene It is a combination of a vascular and a pigmentary nevus Classification Neurological features Ophthalmic features Dermatological features…
Genetics and pathology
- This is caused by mutations in the GNA11 and GNAQ gene
- It is a combination of a vascular and a pigmentary nevus
Classification
Neurological features
Ophthalmic features
Dermatological features
Magnetic resonance imaging (MRI) brain: features
References
- Sliepka JM, McGriff SC, Rossetti LZ, et al.GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurol Genet 2019; 5:e366.
- Nanda A, Al-Abdulrazzaq HK, Habeeb YK, et al. Phacomatosis pigmentovascularis: report of four new cases. Indian J Dermatol Venereol Leprol 2016; 82:298-303.
- Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005; 141:385-388.
- Thomas AC, Zeng Z, Rivière JB, et al. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 2016; 136:770-778.
