Αρχειοθήκη ιστολογίου

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

Παρασκευή 12 Ιανουαρίου 2018

A case of xeroderma pigmentosum complementation group C with diverse clinical features

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sensitivity to sunlight and increased risk of skin cancers. XP is classified into seven nucleotide excision repair-deficient types (A–G) and a variant type1. Differential diagnosis of XP from other genetic pigmentary disorders such as dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH) should be considered, which is sometimes difficult without DNA repair tests or a genetic diagnosis2. DSH and DUH are autosomal dominant diseases characterized by hypo-and hyperpigmented maculae. Recently, ABCB6 was identified as a responsible gene for DUH3.

This article is protected by copyright. All rights reserved.



http://ift.tt/2CXANP8

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου