• Medicine · Nov 2022

    Case Reports

    Progressive hemifacial atrophy in a Chinese patient: A case report.

    • Rongrong Li, Haiyan Yu, Xizi Wang, Weifei Wang, Lili Yan, Fangjie Guo, Conghui Tian, Xiaoling Yuan, Min Zhao, Juan Zheng, Mingliang Gu, Xiaodong Jia, and Dianrong Gong.
    • Department of Joint Laboratory for Translational Medicine Research, Liaocheng People's Hospital, Liaocheng, China.
    • Medicine (Baltimore). 2022 Nov 18; 101 (46): e31872e31872.

    BackgroundProgressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.Case PresentationHere, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.ConclusionThis report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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