Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Πέμπτη 13 Απριλίου 2017

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 organs1-9. 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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