Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Pediatr Dermatol. 2013 Nov-Dec;30(6):e221-2. doi: 10.1111/pde.12126. Epub 2013 Mar 28.

Abstract

We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / congenital
  • Diarrhea
  • Endocrine System Diseases / diagnosis*
  • Endocrine System Diseases / immunology
  • Endocrine System Diseases / therapy
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / therapy
  • Humans
  • Immune System Diseases / diagnosis*
  • Immune System Diseases / genetics
  • Immune System Diseases / therapy
  • Infant
  • Infant, Newborn
  • Male
  • Skin Diseases / diagnosis*
  • Skin Diseases / genetics
  • Skin Diseases / therapy

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome