Abstract
Dyskeratosis congenita (DKC) is an inherited disease characterized by the triad of mucosal leukoplakia, abnormal skin pigmentation and nail dystrophy, and it usually appears between the ages of 5 and 10 yr. Reports show that 19.5% of DKC patients have short stature (1). A major complication of DKC is progressive development of pancytopenia and there is also an increased incidence of malignancies. The X-linked form accounts for the majority of cases and is caused by mutations in the DKC1 gene. We report a 9 yr old boy, who presented with the triad of DKC, a mutation in the DKC1 gene and short stature, who was treated with human recombinant growth hormone (hGH). This is the first report of a DKC patient treated with hGH. Copyright
| Original language | English |
|---|---|
| Pages (from-to) | 77-80 |
| Number of pages | 4 |
| Journal | clinical pediatric endocrinology |
| Volume | 14 |
| Issue number | SUPPL. 24 |
| DOIs | |
| Publication status | Published - 2005 |
Keywords
- DKC1
- Dyskeratosis congenita (DKC)
- Human recombinant growth hormone (HGH)
- Short stature
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology
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Cite this
Kataoka, K., Namba, N., Inoue, M., Morishima, T., Oono, T., Iwatsuki, K., & Tanaka, H. (2005). A dyskeratosis congenita (DKC) patient treated with growth hormone. clinical pediatric endocrinology, 14(SUPPL. 24), 77-80. https://doi.org/10.1297/cpe.14.S24_77