Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X-linked syndrome

Pediatr Dermatol. 2023 Sep-Oct;40(5):886-889. doi: 10.1111/pde.15266. Epub 2023 Feb 2.

Abstract

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.

Keywords: FOXP3; IPEX; alopecia; autoimmunity; vitiligo.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / genetics
  • Diabetes Mellitus, Type 1* / complications
  • Diabetes Mellitus, Type 1* / diagnosis
  • Diabetes Mellitus, Type 1* / genetics
  • Diarrhea / diagnosis
  • Diarrhea / genetics
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, X-Linked* / complications
  • Genetic Diseases, X-Linked* / diagnosis
  • Genetic Diseases, X-Linked* / genetics
  • Humans
  • Hypopigmentation*
  • Immune System Diseases*
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Vitiligo* / genetics

Substances

  • Forkhead Transcription Factors