Too short stature, too many stigmata

Lydia Kossiva; George Vartzelis; Marieta Harisi; Ioanna Logotheti; Anastasia Garoufi

doi:10.1136/bcr.06.2010.3087

Too short stature, too many stigmata

BMJ Case Rep. 2010 Nov 18:2010:bcr0620103087. doi: 10.1136/bcr.06.2010.3087.

Authors

Lydia Kossiva¹, George Vartzelis, Marieta Harisi, Ioanna Logotheti, Anastasia Garoufi

Affiliation

¹ Second Department of Pediatrics, 'P&A Kyriakou' Children's Hospital, Athens University, Athens, Greece. [email protected]

Abstract

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.

Publication types

Case Reports

MeSH terms

Bone Marrow Transplantation
Cell Cycle Proteins / genetics
Child
Dyskeratosis Congenita / diagnosis*
Dyskeratosis Congenita / etiology
Dyskeratosis Congenita / genetics
Dyskeratosis Congenita / surgery
Heterozygote
Human Growth Hormone / deficiency
Human Growth Hormone / therapeutic use
Humans
Male
Nuclear Proteins / genetics
Polymorphism, Single Nucleotide / genetics

Substances

Cell Cycle Proteins
DKC1 protein, human
Nuclear Proteins
Human Growth Hormone