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

ABSTRACT:

Background

Progressive 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 presentation

Here, 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.

Conclusion

This 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.

SUBMITTER: Li R

PROVIDER: S-EPMC9678538 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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

Li Rongrong R Yu Haiyan H Wang Xizi X Wang Weifei W Yan Lili L Guo Fangjie F Tian Conghui C Yuan Xiaoling X Zhao Min M Zheng Juan J Gu Mingliang M Jia Xiaodong X Gong Dianrong D

Medicine 20221101 46

<h4>Background</h4>Progressive 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.<h4>Case presentation</h4>Here, 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 wit ...[more]

PMID: 36401472

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