Open AccessPyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature
Author(s) -
Lingyun Lu,
Xueyang Tang,
Guanghong Luo,
Mengjia Tang,
Yi Liu,
Xijie Yu
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i22.6393
Subject(s) - pyoderma gangrenosum , medicine , dermatology , acne , arthritis , pyoderma , pathology , disease
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation, caused by mutations in the PSTPIP1 gene. Due to PAPA heterogeneous clinical manifestation, misdiagnosis or delayed diagnoses are difficult to avoid. With the use of whole-exome sequencing, we identified a missense mutation in the PSTPIP1 gene in a Chinese family. To the best of our knowledge, this is the first case of PAPA reported in China.