title: Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.
abstract: Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). The other patient is a 5-year-old boy with Sturge-Weber syndrome, Klippel-Trenaunay syndrome, aplasia of iliac, femoral, and popliteal veins and congenital heart disease, associated with aberrant dermal melanocytosis and melanosis oculi (also classified as PPV type IIb or phacomatosis cesioflammea). These sporadic cases display a unique constellation of additional, previously unreported systemic associations, which will further expand the clinical spectrum of phacomatosis pigmentovascularis.
authors.forename: Tejinder
authors.initials: T
authors.lastname: Kaur
authors.affiliation: Government Medical College, Amritsar. drnidhisharma@hotmail.com.
authors.forename: Nidhi
authors.initials: N
authors.lastname: Sharma
authors.forename: Anisha
authors.initials: A
authors.lastname: Sethi
authors.forename: Shitij
authors.initials: S
authors.lastname: Kooner
authors.forename: Harmeet
authors.initials: H
authors.lastname: Banger
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D005148:Facial Dermatoses / Q000175:diagnosis; D005268:Femoral Vein / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis; D007084:Iliac Vein / Q000002:abnormalities; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis*; D054068:Livedo Reticularis; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000175:diagnosis*; D011152:Popliteal Vein / Q000002:abnormalities; D015422:Scleral Diseases / Q000175:diagnosis; D017445:Skin Diseases, Vascular / Q000175:diagnosis*; D013341:Sturge-Weber Syndrome / Q000175:diagnosis*; D013684:Telangiectasis / Q000151:congenital* / Q000175:diagnosis; D014680:Veins / Q000002:abnormalities*