Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature

Figure 1 Pedigree of the PAPA family and genetic analysis. A: Family tree of an autosomal dominant hyponatremia pedigree. Square represents male and circle represents female. Arrow denotes the proband (III-1), black symbols represent the affected individuals (III-1 and III-2). The grey symbol refers to the individual that has the gene mutation without symptoms (II-1). The symbol with diagonal slashes denotes the deceased individual who had the similar symptoms (I-1); B: A missense mutation p.748 G>C (p.E250Q) in PSTPIP1 was found in proband (III-1), III-2, and II-1.