:Phakomatosis pigmentovascularis

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| synonyms = Association of cutaneous vascular malformations and different pigmentary disorders{{cite web |title=Phacomatosis pigmentovascularis {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/4312/index |website=rarediseases.info.nih.gov |access-date=28 April 2019 |archive-date=28 April 2019 |archive-url=https://web.archive.org/web/20190428122544/https://rarediseases.info.nih.gov/diseases/4312/index |url-status=dead }}

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Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a capillary malformation (port-wine stain) with various melanocytic lesions, including dermal melanocytosis (Mongolian spots), nevus spilus, and nevus of Ota.

Types

Phakomatosis pigmentovascularis is subdivided into five types:Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 1012. McGraw-Hill. {{ISBN|0-07-138076-0}}.{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}

  • Type 1 PWS + epidermal nevus
  • Type 2 (most common): PWS + dermal melanocytosis +/- nevus anemicus
  • Type 3: PWS + nevus spilus +/- nevus anemicus
  • Type 4: PWS + nevus spilus + dermal melanocytosis +/- nevus anemicus
  • Type 5: CMTC (Cutis marmorata telangiectatica congenita) + dermal melanocytosis

They all can contain capillary malformation. Type 2 is the most common and can be associated with granular cell tumor. Some further subdivide each type into categories A & B; with A representing oculocutaneous involvement and subtype B representing extra oculocutaneous involvement. Others have proposed fewer subtypes but currently this rare entity is mostly taught as having five subtypes currently.{{citation needed|date=September 2020}}

Diagnosis

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Treatment

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See also

References

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