1. Phacomatosis pigmentovascularis: Report of four new cases
- Author
-
Faisal Alghadhfan, Arti Nanda, Hamad K Al-Abdulrazzaq, Hejab Al-Ajmi, Mohamed Zakkiriah, Y. Habeeb, and Rana Al-Noun
- Subjects
twin spotting ,Congenital glaucoma ,Pathology ,medicine.medical_specialty ,Phacomatosis pigmentovascularis ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,phacomatosis pigmentovascularis ,lcsh:Dermatology ,Medicine ,Nevus ,Humans ,Cutis marmorata telangiectatica ,Neurocutaneous Syndromes ,business.industry ,Infant ,phylloid ,lcsh:RL1-803 ,medicine.disease ,Infectious Diseases ,Vascular nevus ,mosaicism ,Female ,business ,030217 neurology & neurosurgery - Abstract
Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. The existing classifications of phacomatosis pigmentovascularis are based on phenotypic characteristics. We report four new cases of phacomatosis pigmentovascularis, three with phacomatosis cesioflammea demonstrating phenotypic variability, and one with phacomatosis cesiomarmorata. Extracutaneous manifestations were observed in three patients (75%) that included central nervous system involvement in three, bilateral congenital glaucoma in two, and cardiovascular system involvement in one. The molecular basis of phacomatosis pigmentovascularis is yet to be elucidated. Whether the various subtypes of phacomatosis pigmentovascularis are separate molecular entities or phenotypic variants of the same disease needs to be settled.
- Published
- 2016