Phakomatosis pigmentovascularis with lower limb vascular abnormalities in a young Kashmiri male child-Report of a first child from Kashmir Valley (India) and review of literature

Abstract

Phakomatosis is a developmental abnormality simultaneously involving eyes, central nervous system, and skin. Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder which is characterised by a combination of capillary malformations and pigmented anomalies. It arises sporadically. PPV was first described by Ota et al., in 1947. There is no sex predilection, but Japanese have been found to be affected more. There are four main types of PPV. Recently a fifth type with cutis marmorata and aberrant Mongolian blue spot has also been added to the classification. Here we report a case of PPV with Struge – Weber syndrome and Klippel Trenaunay syndrome in a young Kashmiri male child, which has been rarely reported in the literature.

Keywords

• Phakomatosis pigmentovascularis(PPV); Klippel Trenaunay syndrome(KTS); Struge – Weber syndrome(SWS)