Lee Wai Quen, Leong Kin Fon
Paediatric Dermatology Unit, Department of Paediatrics, Hospital Tunku Azizah, Kuala Lumpur, Malaysia.
Pediatr Dermatol. 2023 Sep-Oct;40(5):886-889. doi: 10.1111/pde.15266. Epub 2023 Feb 2.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is characterized by failure to thrive, severe chronic diarrhea, neonatal type 1 diabetes or thyroiditis, and eczematous dermatitis. We report a patient with infantile onset IPEX syndrome who developed vitiligo, alopecia, and chronic diarrhea. Awaiting stem cell transplant, he had multiple episodes of sepsis and succumbed at the age of 10 months. The constellation of symptoms is important to prompt clinicians to suspect this rare syndrome as early hematopoietic stem cell transplantation is the only cure for IPEX patients.
免疫失调、多内分泌腺病、肠病、X连锁综合征（IPEX）的特征为生长发育不良、严重慢性腹泻、新生儿1型糖尿病或甲状腺炎以及湿疹性皮炎。我们报告了一名患有婴儿期起病的IPEX综合征患者，该患者出现了白癜风、脱发和慢性腹泻。在等待干细胞移植期间，他多次发生败血症，并于10个月大时死亡。这些症状组合对于促使临床医生怀疑这种罕见综合征很重要，因为早期造血干细胞移植是IPEX患者的唯一治愈方法。
