Too short stature, too many stigmata.
Dyskeratosis congenita (DC) is a rare disease characterised by bone marrow failure and skin manifestations. Patients with DC may exhibit short stature that is not usually related to growth hormone (GH) deficiency. Replacement treatment with GH should be done cautiously as it can predispose to haematological malignancy. We present a 10-year-old boy with DC and GH deficiency.
Second Department of Pediatrics, 'P&A Kyriakou' Children's Hospital, Athens University, Athens, Greece. lydiakossiva@hotmail.com
Lydia
L
Kossiva
George
G
Vartzelis
Marieta
M
Harisi
Ioanna
I
Logotheti
Anastasia
A
Garoufi
D016026:Bone Marrow Transplantation; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000601:surgery; D006579:Heterozygote; D019382:Human Growth Hormone / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D019382:Human Growth Hormone