Phacomatosis pigmentovascularisQ85.8

Ota, 1947

Very rare (about 250 cases have been described) malformation syndrome (umbrella term) characterized by various combinations of extensive vascular nevi with large melanocytic nevi and other hamartous associations. The joint occurrence is not seen as a coincidence but as an entity.

The syndromes listed below can be summarized under the generic term "phacomatosis pigmentovascularis":

• Type I: Nevus flammeus combined with a verrucous nevus pigmentosus
• Type II(phacomatosis caesioflammea): nevus flammeus combined with Mongolian spot (dermal melanocytosis); possible association with neurological and ocular defects, furthermore with dysplasia of the veins and lymphatic vessels as well as a nevus anaemicus are possible (mutation in GNAQ/GNA11)
• Type III(phakomatosis spilorosea): nevus flammeus(nevus roseus) combined with nevus spilus (mutation in the PTPN11 gene)
• Type IV: Naevus flammeus combined with naevus spilus and Mongolian spot, possibly also naevus anaemicus.
• Type V(Phakomatosis caesiomarmorata): Joint occurrence of a Mongolian spot with cutis marmorata teleagiectatica congenita; associations with asymmetry of the cerebral hemispheres, increased leg growth, blue sclerae have been described (mutations in the GNAQ/GNA11 genes).

A naevus anaemicus may be associated with types II, III and IV. The individual types are further classified according to a) and b), depending on whether a) exclusively cutaneous or b) additional systemic involvement, e.g. dysplasia of larger vessels (e.g. vena cava), is present.

Genodermatosis with sporadic occurrence. It was assumed that this phacomatosis is based on a nonallelic didymosis ( twin spotting). However, it has been shown that in another form of twin spotting(phacomatosis pigmentokeratotica) a somatic HRAS mutation in an early progenitor cell leads to a differentiation of different tissue types.

Not recommended

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10. Nimizu N et al. (2015) Unusual case of phakomatosis pigmentovascularisin a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. J Dermatol 42:1006-1007
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12. Polubothu S et al. (2019) Phacomatosis pigmentovascularis spilorosea and speckled lentiginous naevus syndrome are caused by mosaic mutations in gene PTPN11. Pediatr Dermatol 36:S7
13. Thomas AC et al. (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phacomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136:770-778.
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15. Yang Yet al. (2015) Phacomatosis pigmentovascularis associated with Sturge-Weber syndrome, Ota Nevus, and congenital glaucoma. Medicine (Baltimore) 94:e1025