Kaur Tejinder, Sharma Nidhi, Sethi Anisha, Kooner Shitij, Banger Harmeet
Government Medical College, Amritsar.
Dermatol Online J. 2015 Sep 17;21(9):13030/qt0r26h8pm.
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.
色素血管性母斑病（PPV）是一种罕见的遗传性皮肤病，其特征是广泛的血管痣和色素痣并存，可有或无皮肤外表现。我们报告两例此类罕见病例。第一例是一名3岁男孩，表现为先天性网状青斑伴异常真皮黑素细胞增多症，同时伴有尿道下裂和眼黑变病（传统上归类为PPV Vb型或大理石样皮肤色素血管性母斑病——哈普尔分类法）。另一例患者是一名5岁男孩，患有斯-韦综合征、克-特综合征、髂静脉、股静脉和腘静脉发育不全以及先天性心脏病，伴有异常真皮黑素细胞增多症和眼黑变病（也归类为PPV IIb型或火焰状皮肤色素血管性母斑病）。这些散发病例显示出一系列独特的、以前未报道过的其他系统性关联，这将进一步扩大色素血管性母斑病的临床谱。
