We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Phacomatosis pigmentovascularis: Report of four new cases.
- Authors
Nanda, Arti; Al-Abdulrazzaq, Hamad K.; Habeeb, Yousif K. R.; Zakkiriah, Mohamed; Alghadhfan, Faisal; Al-Noun, Rana; Al-Ajmi, Hejab
- 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.
- Subjects
NEVUS; GLAUCOMA; CUTANEOUS manifestations of general diseases; CARDIOVASCULAR system; PHENOTYPES
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2016, Vol 82, Issue 3, p298
- ISSN
0378-6323
- Publication type
journal article
- DOI
10.4103/0378-6323.178905