色素血管性母斑症(Phakomatosis Pigmentovascularis)

The Greek word "phacos" means "nevus." The term "phacomatosis" was previously mainly applied to genetically determined diseases of tissues of ectodermal origin, involving the central nervous system, eyes and skin. Now this term, together with a specifying adjective, is applied to few genetically determined diseases characterised by multiple nevi being present with or without systemic involvement, e.g., neurofibromatosis, tuberous sclerosis and PPV. PPV is defined as an association of a widespread vascular nevus with an extensive pigmentary nevus. Types described thus far can be explained on the basis of the twin spotting phenomenon
色素血管性母斑症是指同時出現微血管畸形和黑色素病灶的胎記，依照色素及血管的異常，可分別命名為Phakomatosis cesioflammea (II, 77%), Phakomatosis spilorosea (III, 13%), Phakomatosis cesiomarmorata (V, 1%), unclassified (IV, 8%)，也有與 Klippel–Trenaunay syndrome 及 Sturge–Weber syndrome 重疊出現的報告。

類型	色素病變	血管病變	比例
I	Pigmented linear epidermal nevus(N pigmentosus et verrucosus)	N. flammeus	a: 3% b: 0%
II	Dermal melanocytic nevus(aberrant Mongolian spots)	N. flammeus (c/ct N anemicus)	a: 30% b: 45%
III (1966, Toda)	Nevus spilus	N. flammeus (c/ct N anemicus)	a: 6% b: 7%
IV(Hasegawa and Yasuhara in 1979)	N. spilus and aberrant Mongolian spots (dermal melanocytic nevus)	N. flammeus (c/ct N anemicus)	a: 5% b: 2%
V	Dermal melanocytic nevus	Cutis marmorata telangiectatica congenita	a: 1% b: 0%

In 2005, Rudolph Happle reclassified it into three types: phacomatosis cesioflammea (identical with traditional types IIa and IIb), phacomatosis spilorosea (traditional types IIIa and IIIb) and phacomatosis cesiomarmorata (traditional type V). He further dropped the term type I and proposed to put the extremely rare unclassifiable form as type IV. Further, he proposed the term "phacomatosis multiplex" for some cases that could not be ascribed to any well-defined clinico-genetic entity. For example, Joshi et al. described a combination of port-wine stain, congenital Becker's nevus, cafι-au-lait (CAL) macules and lentigines as a case of PPV type Ia, which can now be ascribed to be phacomatosis multiplex. 

Classification of phacomatosis pigmentovascularis[ 2005, Rudolph Happle ]