Dyskeratosis congenita associated with hypocellular myelodysplastic syndrome: a case report

Am J Med Sci. 2007 Sep;334(3):206-8. doi: 10.1097/MAJ.0b013e3181405e51.

Abstract

A 16-year-old female patient presented with complaints of malaise, dizziness, syncope, and nausea of 1-week duration. On dermatologic examination there were telangiectasias, atrophic areas, and poikiloderma with both hypopigmentation and hyperpigmentation on the neck and the proximal parts of the thighs. The bone marrow biopsy specimen showed hypocellularity and dysplastic megakaryocytic and erythroid elements, findings consistent with hypocellular myelodysplastic syndrome, which was further confirmed by cytogenetic studies. Thereafter, she was referred for allogeneic bone marrow transplantation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cell Cycle Proteins / genetics
  • Chromosomes, Human, X
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / genetics
  • Female
  • Humans
  • Hyperpigmentation / etiology
  • Hyperpigmentation / genetics
  • Mutation
  • Myelodysplastic Syndromes / etiology*
  • Nuclear Proteins / genetics

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins