Pigment-vascular phacomatosesQ85.8

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

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

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

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: 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.

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: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer