Phacomatosis pigmentovascularisQ85.8

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 16.05.2024

Dieser Artikel auf Deutsch

Synonym(s)

phacomatosis pigmentovascularis (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.

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.

ClassificationThis section has been translated automatically.

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

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.

EtiopathogenesisThis section has been translated automatically.

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.

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. Abdolrahimzadeh S et al. (2021) Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management. Surv Ophthalmol 66:482-492
  2. Arnold AW et al. (2012) Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. Eur J Dermatol 22:473-475.
  3. Byrom L et al. (2015) Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. Dermatol Online J 21:13030/qt2b0980p8. P
  4. Fischer K (2015) Phacomatosis pigmentovascularis. JDDG 13: 1178-1179
  5. Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol. 141:385-388.
  6. Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots. Dermatology 40: 721-724
  7. Kaur T et al. (2015) Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. Dermatol Online J 21:13030/qt0r26h8pm.
  8. Kumar A et al. (2019) Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Am J Med Genet A 179:966-977.
  9. 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
  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
  11. Ota M, Kawamura T, Ito N (1947) Phacomatosis pigmentovascularis (Ota). Jpn J Dermatol 52: 1-3
  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.
  14. Torrelo A et al. (2003) Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol 148(2):342-345.
  15. Yang Yet al. (2015) Phacomatosis pigmentovascularis associated with Sturge-Weber syndrome, Ota Nevus, and congenital glaucoma. Medicine (Baltimore) 94:e1025

Authors

Last updated on: 16.05.2024