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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].
- 1.Bolognia J, Jorizzo J, Schaffer J. Dermatology. 3rd ed. London/New York: Elsevier; 2012.Google Scholar