Phakomatosis pigmentovascularis explained
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| Synonyms: | Association of cutaneous vascular malformations and different pigmentary disorders[1] |
| Field: | dermatology |
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:[2] [3]
- 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.
See also
Notes and References
- Web site: Phacomatosis pigmentovascularis Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 28 April 2019 . 28 April 2019 . https://web.archive.org/web/20190428122544/https://rarediseases.info.nih.gov/diseases/4312/index . dead .
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 1012. McGraw-Hill. .
- Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
