Ontology highlight
ABSTRACT:
SUBMITTER: Wang T
PROVIDER: S-EPMC7186625 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Wang Tao T Wang Yongwei Y Dong Qi Q Xu Chenchen C Zhou Xiping X Ouyang Yunshu Y Liu Yaping Y Lee Jonathan J JJ Hu Nina N Wang Kevin K Zdravkovic Tanja Prunk TP Shen Jun J Nie Guangjun G Lian Christine G CG Liu Yuehua Y
Annals of translational medicine 20200301 6
<h4>Background</h4>X-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of <i>ALAS2</i> gene.<h4>Methods</h4>This study aimed to confirm the existence of XLDPP in a Chinese pedigree. We observed and described the dermatoscopic findings of this disorder under dermoscopy, and assess ...[more]