Megan M Tran, Pallavi Basu Sprau, Amanda R Moyer, Kerri E Rieger, Matthew A Lewis, Joyce J Hsu, Dawn H Siegel
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引用次数: 0
摘要
PSTPIP1相关髓系相关蛋白血症炎症(PAMI)综合征是一种罕见的自身炎症性疾病,通常发生在儿童患者身上。我们报告了一例 18 岁女性患者的病例,该患者既往有生长发育障碍、免疫球蛋白 A 肾病和炎症性关节炎病史,曾因痤疮、银屑病样皮炎和化脓性扁平苔藓到儿科皮肤病诊所就诊,其临床、遗传和实验室检查结果与 PAMI 综合征极为吻合。我们进行了文献综述,以便根据皮肤病学检查结果更好地描述这种罕见病症。识别 PAMI 综合征的独特皮肤发现有助于将其与其他炎症性疾病区分开来,从而加快诊断和治疗。
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature.
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder often arising in pediatric patients. We present a case of an 18-year-old female with a past medical history of growth failure, immunoglobulin A nephropathy, and inflammatory arthritis who presented to a pediatric dermatology clinic with findings of acne, psoriasiform dermatitis, and hidradenitis suppurativa, whose clinical, genetic, and laboratory findings were most consistent with PAMI syndrome. We conducted a literature review to better characterize this rare condition in the context of dermatologic findings. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.
期刊介绍:
Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.