A dyskeratosis congenita (DKC) patient treated with growth hormone

Kyoko Kataoka, Noriyuki Namba, Masaru Inoue, Tsuneo Morishima, Takashi Oono, Keiji Iwatsuki, Hiroyuki Tanaka

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)77-80
Number of pages4
Journalclinical pediatric endocrinology
Volume14
Issue numberSUPPL. 24
DOIs
Publication statusPublished - 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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