Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review

作者：Huang, Xiaowen; Xu, Meinian; Dai, Siqi; Wang, Menglei; Zheng, Huanxin; Zeng, Kang; Li, Li^*

来源：JOURNAL OF DERMATOLOGY, 2021, 48(4): 519-528.

DOI：10.1111/1346-8138.15706

• PAMI
• PSTPIP1
• mutation
• acne
• leukopenia

PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1-associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne-like lesions. Through whole-exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).

• 单位
  南方医科大学