Skip to main content

Phakomatosis Pigmentovascularis

  • Chapter

Abstract

Phakomatosis pigmentovascularis (PPV) is defined as the coexistence of a widespread vascular (usually capillary) nevus (nevus flammeus) and an extensive pigmentary nevus (usually of the Mongolian spot type or blue/slate/grey oculo-cutaneous melanocytosis) associated to a variety of other cutaneous nevus (e.g., anaemicus, epidermal nevus, telangiectatic nevus, nevus spilus or cutis marmorata telangiectatica) and/or extracutaneous alterations (Happle 2005, Ruiz-Maldonado et al. 1987, Vidaurri-de la Cruz et al. 2003). All types of PPV so far described have been best explained as examples of twin spotting (Happle 1999, 2005).

Keywords

  • Moyamoya Disease
  • Weber Syndrome
  • Epidermal Nevus
  • Capillary Malformation
  • Mongolian Spot

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

This is a preview of subscription content, access via your institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-3-211-69500-5_23
  • Chapter length: 6 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   269.00
Price excludes VAT (USA)
  • ISBN: 978-3-211-69500-5
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD   349.99
Price excludes VAT (USA)
Hardcover Book
USD   499.99
Price excludes VAT (USA)

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Al Robaee A, Banka N, Alfadley A (2004) Phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome. Pediatr Dermatol 21: 642–645.

    PubMed  CrossRef  Google Scholar 

  • Bleehen SS (1998) Disorders of skin colour. In: Champion RH, Burton JL, Burns DA, Breathnach SM (eds.) Rook/Wilkinson/Ebling Textbook of Dermatology. 6th ed. Oxford: Blackwell Science, pp. 1791–1792.

    Google Scholar 

  • Castorf M, Rinaldi R, Angelo C, Zambruno G, Grammatico P, Happle R (2008) Phacomatosis cesioflammea with unilateral lipohypoplasia. Am J Med Genet A 146: 492–495.

    Google Scholar 

  • Cho S, Choi JH, Sung KJ, Moon KC, Koh JK (2001) Phakomatosis pigmentovascularis type IIb with neurologic abnormalities. Pediatr Dermatol 18: 263.

    PubMed  CAS  Google Scholar 

  • Diociaiuti A, Guidi B, Aguilar Sanchez JA, Feliciani C, Capizzi R, Amerio P (2005) Phakomatosis pigmentovascularis type IIb: a case associated with Sturge-Weber and klippel-Trenaunay syndrome. J Am Acad matol 8: 569–572.

    Google Scholar 

  • Du LC, Delaporte E, Catteau B, Destee A, Piette F (1998) Phakomatosis pigmentovascularis Type II. Eur J Dermatol 8: 569–572.

    PubMed  CAS  Google Scholar 

  • Enjolras O, Mulliken JB (2000) Vascular malformations. In: Harper J, Oranje A, Prose N (eds.) Textbook of Dermatology. Oxford: Blackwell Science, pp. 975–976.

    Google Scholar 

  • Fernandez-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ (2008) Phakomatosis pigmentovascularis: clinical findings in 15 patients and review of the literature. J Am Acad Dermatol 58: 88–93.

    PubMed  CrossRef  Google Scholar 

  • Gomez MR (1987) Neurocutaneous diseases. A Practical Approach. Boston: Butterworths.

    Google Scholar 

  • Guiglia MC, Prendeville JS (1991) Multiple granular-cell tumors associated with giant speckled lentiginous nevus and nevus flammeus in a child. J Am Acad Dermatol 24: 359–363.

    PubMed  CrossRef  CAS  Google Scholar 

  • Hagiwara K, Uezato H, Nonaka S (1998) Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granulom. J Dermatol 25: 721–729.

    PubMed  CAS  Google Scholar 

  • Hall BD, Cadle RG, Morrill-Cornelius SM, Bay CA (2007) Phakomatosis pigmentovascularis: implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. Am J Med Genet A 143: 3047–3053.

    Google Scholar 

  • Happle R (1999) Loss of heterozygosity in human skin. J Am Acad Dermatol 14: 143–161.

    CrossRef  Google Scholar 

  • Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 141: 385–388.

    PubMed  CrossRef  Google Scholar 

  • Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis gedeuted als ein Phänomen der Zwillingsflecken. Hautarzt 40: 721–724.

    PubMed  CAS  Google Scholar 

  • Hasegawa Y, Yasuhara M (1985) Phakomatosis pigmentovascularis type Iva. Arch Dermatol 48: 256–258.

    Google Scholar 

  • Karabudak O, Dogan B, Basekim C, Harmanyeri Y (2007) Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). Australas J Dermatol 48: 256–258.

    PubMed  CrossRef  Google Scholar 

  • Kikuchi I, Okasaki M (1982) Congenital temporal alopecia in Phakomatosis pigmentovascularis. J Dermatol 9: 485–487.

    PubMed  CAS  Google Scholar 

  • Kim YC, Park HJ, Cinn YW (2002) Phakomatosis pigmento vascularis type IIa with generalized vitiligo. Br J Dermatol 147: 1028–1029.

    PubMed  CrossRef  Google Scholar 

  • Kono T, Ercöcen AR, Chan HH, Kikuchi Y, Hori H, Uezono S, Nozaki M (2003) Treatment of phakomatosis pigmento-vascularis: A combined multiple laser approach. Dermatol Surg 29: 642–646.

    PubMed  CrossRef  Google Scholar 

  • Lee CW, Choi DY, Oh YG, Yoon HS, Kim JD (2005) An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. J Korean Med Sci 20: 1082–1084.

    PubMed  CrossRef  Google Scholar 

  • Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment. J Eur Acad Dermatol Venereol 21: 402.

    PubMed  CrossRef  CAS  Google Scholar 

  • Ota S, Lopez A, Ito N (1987) Phakomatosis pigmentov vascularis. Jpn J Dermatol 57: 1–3.

    Google Scholar 

  • Ruiz-Maldonado R, Tamayo L, Laterza AM, Brawn G, Lopez T (1987) Phakomatosis pigmentovascularis: A new syndrome? Report of four cases. Pediatr Dermatol 4: 189–196.

    PubMed  CrossRef  CAS  Google Scholar 

  • Saricaoglu MS, Guven D, Karakurt A, Sengun A, Ziraman I (2002) An unusual case of Sturge-Webers syndrome in association with phakomatosis pigmentovascularis and klippel-Trenaunay-Weber syndrome. Retina 22: 368–371.

    PubMed  CrossRef  Google Scholar 

  • Tsuruta D, Fukai K, Seto M, Fujitani K, Shindo K, Hamada T, Ishii M (1991) Phakomatosis pigmentovascularis (TypeIIIa) associated with Moyamoya disease. Pediatr Dermatol 16: 35–38.

    CrossRef  Google Scholar 

  • Torrelo A, Zambrano A, Happle R (2006) Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol 20: 308–310.

    PubMed  CrossRef  CAS  Google Scholar 

  • Uysal G, Guven A, Ozhan B, Ozturk MH, Mutluay AH, Tulunay O (2005) Phacomatosis pigmentovascularis with Sturge-Weber syndrome. J Dermatol 27: 467–470.

    Google Scholar 

  • Vidaurri-de la Cruz H, Tamayo-Sanchez 1, Duran-McKinster C, Orozco-Covarrubias Mde L, Ruiz-Maldonado R (2003) Phakomatosis Pigmentovascularis II and II B: Clinical findings in 24 patients. J Dermatol 30: 381–388.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 2008 Springer-Verlag/Wien

About this chapter

Cite this chapter

Ruiz-Maldonado, R., Duràn-McKinster, C., Orozco-Covarrubias, L., Saez-De-Ocariz, M. (2008). Phakomatosis Pigmentovascularis. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-211-69500-5_23

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

  • eBook Packages: MedicineMedicine (R0)