Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: Is it a distinct disorder?

Abstract

A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Although some similar complex cases have previously been reported, it seems too early to give them a specific name. Rather, the present case should be included, so far, into the group of unclassifiable types of phacomatosis pigmentovascularis.

New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

“…The genetic phenomenon of nonallelic twin spotting has been suggested as a possible mechanism . However, this hypothesis has recently been withdrawn by Happle because postzygotic mosaic mutations in the GNAQ gene have been identified in Sturge–Weber syndrome, nonsyndromic PWS, blue nevi, and nevus of Ota, thus excluding loss of heterozygosity as a mechanism explaining PPV …”

“…However, the classification can be challenging in certain cases that do not fulfill the criteria for any of the groups described by Happle or when there is overlapping between the different types. The combination of the three conditions, PWS, CMTC, and dermal melanocytosis, has been reported in six cases (Table ). Therefore, and as already claimed by some authors, it would be more judicious, through the accumulation of the cases, to consider these observations of PPV as a distinct entity with a specific name such as “phacomatosis cesio‐flammeo‐marmorata.”…”