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

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). © 2021 Japanese Dermatological Association.

Citation

Xiaowen Huang, Meinian Xu, Siqi Dai, Menglei Wang, Huanxin Zheng, Kang Zeng, Li Li. Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review. The Journal of dermatology. 2021 Apr;48(4):519-528

Mesh Tags

Substances

PMID: 33458872

search → result