Evolution of the skin manifestations of X-linked Pigmentary Reticulate Disorder

Abstract

X-linked reticulate pigmentary disorder (XLPDR, MIM 301220) is a rare syndrome first recognized by Partington¹. The cardinal manifestations of the disorder are diffuse reticulate hyperpigmentation, hypohidrosis, and unique facial features, as well as recurrent pneumonias and sterile inflammation in various organs^1-9. The syndrome is exceedingly rare and only 20 patients have been reported worldwide. Recently, we identified that the disorder is associated with a recurrent intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA Polymerase-α⁹. Here, we report a new case of XLPDR and include the first detailed description of the evolution of its dermatologic features, as well as confirmation of the same intronic POLA1 mutation.

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