Dyskeratosis congenita associated with hypocellular myelodysplastic syndrome: a case report.
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.
Engin
Hüseyin
H
Karaelmas University Faculty of Medicine, Department of Internal Medicine, Zonguldak, Turkey. bulengin@yahoo.com
Kuzu
Işinsu
I
Ustündağ
Yücel
Y
Aydemir
Selim
S
Aköz
Ayla Gökmen
AG
Kilinçarslan
Dilşat
D
D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics; D041321:Chromosomes, Human, X; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology / Q000235:genetics; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000209:etiology*; D009687:Nuclear Proteins / Q000235:genetics
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins