Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Group of very rare (about 250 cases have been described) binary genodermatoses with coexisting extensive vascular malformations and a (large-area) melanocytic nevus, in which the common occurrence is not a coincidence but is evaluated as an entity. Sometimes internal organs are involved, especially the central nervous system and the eyes.
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ClassificationThis section has been translated automatically.
- Type I: Nevus flammeus combined with Nevus pigmentosus verrucosus
- Type II: Nevus flammeus combined with mongol stain (dermal melanocytosis)
- Type III: Nevus flammeus combined with nevus spilus (Phacomatosis spilorosea)
- Type IV: Nevus flammeus combined with Nevus spilus and Mongolian spot, possibly also Nevus anaemicus
In types II, III and IV a nevus anaemicus may be associated. A further classification of the individual types according to a) and b) is made depending on whether a) exclusively cutaneous or b) also additional systemic involvement, e.g. dysplasia of larger vessels (e.g. V. cava), is present.
EtiopathogenesisThis section has been translated automatically.
Genodermatosis with sporadic occurrence. It was assumed that this phacomatosis is caused by a nonallelic didymosis ( twin spotting). However, it has been shown that in another form of twin spotting(phacomatosis pigmentokeratotica) a somatic HRAS mutation (chromosome 9q21.2) in an early progenitor cell leads to differentiation of different tissue types.
Clinical featuresThis section has been translated automatically.
TherapyThis section has been translated automatically.
Not recommended
LiteratureThis section has been translated automatically.
- Convalexius P et al. (2017) Congenital telangiectatic and pigmented lesions associated with lymphedema
,difference in leg length, and scoliosis.J Dtsch Dermatol Ges 15:751-753. - Fischer K (2015) Phacomatosis pigmentovascularis. JDDG 13: 1178-1179
- Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots. dermatologist 40: 721-724
- Lo PY, Tzung TY (2003) Phacomatosis pigmentovascularis type IIb with a patent umbilical vein and inferior vena cava hypoplasia. Br J Dermatol 148: 836-838
- 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
- Ota M, Kawamura T, Ito N (1947) Phacomatosis pigmentovascularis (Ota). Jpn J Dermatol 52: 1-3
- Yang Yet al (2015) Phacomatosis Pigmentovascularis associated with Sturge-Weber Syndrome, Ota Nevus, and congenital glaucoma. Medicine (Baltimore) 94:e1025
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Incoming links (6)
Caesioflammea phacomatosis; Caesiomarble phacomatosis; Cutis marmorata teleangiectatica congenita; Phacomatosis pigmentovascularis; Phacomatosis spilorosea; Twin spots;Outgoing links (6)
Genodermatoses; Mongolian spot; Nevus anaemicus; Nevus spilus; Phacomatosis pigmentokeratotica; Twin spots;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer