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Phakomatosis

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
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Abstract

Phakomatosis Pigmentovascularis describes a group of rare sporadic genodermatoses that have cutaneous, neurovascular, and ophthalmological abnormalities. All five subtypes have variable combinations of vascular and pigmentary lesions. The first subtype is phakomatosis Ia/b which makes up a minority of cases. It is characterized by an epidermal nevus presenting with a nevus flammeus. Type IIa/b phakomatosis (also known as phakomatosis cesioflammea), the most common type, demonstrates dermal melanocytosis and a nevus flammeus. Patients can also present with nevus anemicus, hypotrichosis, lipohypoplasia and hypoplastic nails. The third type is III a/b (or phakomatosis spilorosea), which includes a macular nevus spilus in combination with a nevus flammeus. Similarly, patients can also present with nevus anemicus and hypotrichosis as well as lymphedema. Type IVa/b (phakomatosis pigmentovascularis, unclassifiable) presents with a nevus flammeus, hypermelanosis, and a nevus spilus in addition to nevus anemicus, nevoid hyper- or hypopigmentation and nevus sebaceous. Lastly, type V a/b (phakomatosis cesiomarmorata) combines dermal melanocytosis with cutis marmorata telangiectatica congenita [1, 2].

References

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    Bolognia J, Jorizzo J, Schaffer J. Dermatology. 3rd ed. London/New York: Elsevier; 2012.Google Scholar
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    Al Robaee A, Banka N, Alfadley A. Phakomatosis pigmentovascularis type IIb associated with Sturge-weber syndrome. Pediatr Dermatol. 2004;21(6):642–5.CrossRefGoogle Scholar
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    Thomas AC, Zeng Z, Riviere JB, et al. Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol. 2016;136(4):770–8.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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