Peyron N, Dereure O, Bessis D, Guilhou J J, Guillot B
Service de Dermatologie-Phlébologie, CHRU Montpellier, Hôpital Saint-Charles.
J Mal Vasc. 1993;18(4):336-9.
Phakomatosis pigmentovascularis is an uncommon disease, with a peculiar association of capillary hemangioma and pigmented lesions. Four entities have to date been described (I to IV), with localized (a) or systematical (b) involvement. In this latter subtype, the cutaneous lesions are associated with visceral (eye, central nervous system) and bony abnormalities. We describe two additional cases of phakomatosis pigmentovascularis type II (b) associated with a Klippel-Trenaunay syndrome. These reports emphasize the frequent occurrence of angiodysplasia of the Klippel-Trenaunay or Sturge-Weber-Krabbe type in the systemic subtype, especially II (b). Accordingly, complete investigations are warranted in all cases, with special attention for bones and some internal organs like eye and central nervous system. Pathophysiological hypothesis for phakomatosis pigmentovascularis are discussed.
色素血管性斑痣性错构瘤病是一种罕见疾病，具有毛细血管瘤与色素沉着性病变的特殊关联。迄今为止已描述了四种类型（I至IV），有局限性（a）或系统性（b）累及。在后一种亚型中，皮肤病变与内脏（眼、中枢神经系统）和骨骼异常相关。我们描述了另外两例与克-特综合征相关的II型（b）色素血管性斑痣性错构瘤病。这些报告强调了在系统性亚型，尤其是II（b）型中，克-特或斯-韦-克型血管发育异常的频繁发生。因此，所有病例都需要进行全面检查，特别关注骨骼以及眼和中枢神经系统等一些内部器官。本文还讨论了色素血管性斑痣性错构瘤病的病理生理假说。
