Sturge–Weber syndrome type II with contralateral Klippel–Trenaunay syndrome: A rare case report

Phakomatosis, or neurocutaneous syndromes, comprises a group of genetic disorders with abnormalities involving primarily the skin and central nervous system.Skin lesions usually appear early in life, while the neurological abnormalities show a delayed onset.This group of disorders includes neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS), von Hippel-Lindau syndrome, PHACE syndrome, ataxia telangiectasia, linear nevus syndrome, hypomelanosis of Ito, and incontinentia pigmenti.SWS is a rare sporadic phakomatosis that comprises a classical triad of port wine stain (PWS), facial angiomas, and leptomeningeal angiomas with or without glaucomatous changes.KTS is also included under phakomatosis, which is characterized by the coexistence of venous abnormalities, limb hypertrophy, and cutaneous and capillary malformations. [1][2][3] Overlapping features of SWS and KTS in a single patient are extremely rare, as both syndromes occur almost always sporadically.Here, we report a case of a 28-year-old male with overlapping features of both disorders and bilateral refractory childhood glaucoma.