Dyskeratosis congenita or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia

Pediatr Dermatol. 1993 Dec;10(4):362-5. doi: 10.1111/j.1525-1470.1993.tb00400.x.

Abstract

A 12-year-old boy had striking reticulate hyperpigmentation of the neck and upper chest, dystrophic nails, patchy alopecia, and a white streak on the buccal mucosa. He was diagnosed as having chronic graft-versus-host disease (GVHD) based on clinical findings, skin biopsy findings, and his history of a bone marrow transplantation for aplastic anemia eight years earlier. Dyskeratosis congenita (DC) was not a diagnostic consideration, although the clinical findings and history of aplastic anemia made it a compelling possibility. This case highlights the clinical similarities between DC and chronic GVHD and the difficulty in arriving at an unequivocal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Aplastic / therapy*
  • Bone Marrow Transplantation*
  • Child
  • Chronic Disease
  • Diagnosis, Differential
  • Graft vs Host Disease / diagnosis*
  • Humans
  • Hyperpigmentation / congenital
  • Hyperpigmentation / diagnosis
  • Male
  • Nail Diseases / congenital
  • Nail Diseases / diagnosis
  • Skin Diseases / congenital*
  • Skin Diseases / diagnosis*
  • Time Factors