Pigment-vascular phacomatosesQ85.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 09.05.2024

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Synonym(s)

caesioflammea phacomatosis; caesiomarble phacomatosis; OMIM 183500; Phacomatosis pigmentovacularis type IIa/b; phacomatosis pigmentovascularis; phacomatosis spilorosea; PPV

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HistoryThis section has been translated automatically.

Ota, 1947

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.

ClassificationThis section has been translated automatically.

  • Type I: Nevus flammeus combined with nevus pigmentosus verrucosus
  • Type II: Naevus flammeus combined with Mongolian spot (dermal melanocytosis)
  • Type III: Naevus flammeus (naevus roseus) combined with naevus spilus (phacomatosis spilorosea)
  • Type IV: Naevus flammeus combined with naevus spilus and Mongolian spot, possibly also naevus anaemicus

Types II, III and IV may be associated with a naevus anaemicus. 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.

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.

Interindividually variable combination of nevus spilus, mongoloid stain, nevus flammeus, possibly associated defects of other organs

TherapyThis section has been translated automatically.

Not recommended

LiteratureThis section has been translated automatically.

  1. 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.
  2. Fischer K (2015) Phacomatosis pigmentovascularis. JDDG 13: 1178-1179
  3. Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots. dermatologist 40: 721-724
  4. 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
  5. 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
  6. Ota M, Kawamura T, Ito N (1947) Phacomatosis pigmentovascularis (Ota). Jpn J Dermatol 52: 1-3
  7. Yang Yet al (2015) Phacomatosis Pigmentovascularis associated with Sturge-Weber Syndrome, Ota Nevus, and congenital glaucoma. Medicine (Baltimore) 94:e1025

Authors

Last updated on: 09.05.2024

Author: Prof. Dr. med. Peter Altmeyer