Dyskeratosis congenita associated with hypocellular myelodysplastic syndrome: A case report

Engin H., KUZU I., Uestuendag Y., Aydemir S., Akoez A. G., Kilicarslan D.

AMERICAN JOURNAL OF THE MEDICAL SCIENCES, cilt.334, sa.3, ss.206-208, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 334 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1097/maj.0b013e3181405e51
  • Dergi Adı: AMERICAN JOURNAL OF THE MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.206-208
  • Anahtar Kelimeler: dyskeratosis congenita, myelodysplastic syndrome, APLASTIC-ANEMIA, TELOMERASE, MUTATIONS
  • Ankara Üniversitesi Adresli: Evet

Özet

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.