Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

Abstract

In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups.

Mixed vascular nevus syndrome: a report of four new cases and a literature review

“…The so-called phacomatosis pigmentovascularis (PPV) (7,10,16) 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 or not to a variety of other cutaneous nevi including nevus anemicus, nevus telangiectaticus, epidermal nevus, nevus spilus or cutis marmorata telangectasica and/ or extra-cutaneous alterations. The various combinations of skin nevi are currently classified as (7): (I) PPV type I (capillary malformation + epidermal nevus; (II) PPV type II (type IIa: nevus flammeus and Mongolian spot; type IIb: IIa + nevus anemicus; (III) PPV type III (type IIIa: nevus flammeus and nevus spilus; type IIIb: type IIIa + nevus anemicus; (IV) PPV type IV (nevus flammeus and Mongolian spot and nevus spilus + nevus anemicus; (V) PPV type V (Mongolian spot and cutis marmorata telangiectatica congenita.…”

Mongolian spots

“…[42] Mongolian spots have been described in association with non-involuting congenital hemangioma, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, cutis marmorata telangiectatica congenita and segmental café-au-lait macules. [43][44][45] In these cases persistent Mongolian spots carry a worse prognosis and may be associated with underlying neurological defects.…”

“…[43][44][45] In these cases persistent Mongolian spots carry a worse prognosis and may be associated with underlying neurological defects. [42] Child abuse In recent years, documentation of the Mongolian spots has assumed medico-legal importance as they can sometimes be confused with bruises, especially if present over atypical sites. This leads to a mistaken diagnosis of child abuse or battered child syndrome.…”

Sturge-Weber syndrome with bilateral nevus flammeus

“…The lesion extension over the middle line is observed in 50% of the patients and bilateral involvement can be detected in about 33% of the cases. [8,9] Extensive nevus flemmus associated with pigmentary nevi, particularly in the form of aberrant, widespread, and persistent Mongolian spots occurs in Phakomatosis pigmentovascularis, [10] which is classified into 4 types (Hasegawa and Yasuhara, 1979): We recommend that children with SWS should undergo regular yearly follow-up visits for neurophysiological testing so that appropriate recommendations can be made to support their progress cognitively, emotionally and socially.…”