Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis.

INTRODUCTION

Phacomatosis pigmentovascularis is a term encompassing a group of disorders characterized by the coexistence of a segmental pigmented nevus of melanocytic origin and segmental capillary nevus. Over the past decades, confusion over the names and definitions of phacomatosis spilorosea, phacomatosis melanorosea, and their defining nevi, as well as of unclassifiable phacomatosis pigmentovascularis cases, has led to several misplaced diagnoses in published cases.

METHODS

A systematic and critical review of the worldwide literature on phacomatosis spilorosea and phacomatosis melanorosea was carried out.

RESULTS

This study yielded 18 definite instances of phacomatosis spilorosea and 14 of phacomatosis melanorosea, with one and six previously unrecognized cases, respectively.

CONCLUSIONS

Phacomatosis spilorosea predominantly involves the musculoskeletal system and can be complicated by neurological manifestations. Phacomatosis melanorosea is sometimes associated with ancillary cutaneous lesions, displays a relevant association with vascular malformations of the brain, and in general appears to be a less severe syndrome. Established phacomatosis pigmentovascularis variants now include phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis spilorosea, phacomatosis melanorosea, phacomatosis cesioflammeomarmorata, and phacomatosis melanocesioflammea.