Dyskeratosis congenita
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A teenage boy with nail dystrophy, oral leukoplakia, and lacy skin pigmentation develops aplastic anemia. Telomere length is very short.
XLR (DKC1), AD (TERC, TERT), AR (multiple genes)
- Telomere biology disorders
- Classic triad: Nail dystrophy, oral leukoplakia, abnormal skin pigmentation
- Bone marrow failure (aplastic anemia)
- Pulmonary fibrosis
- Liver disease
- Cancer predisposition
- Very short telomeres
- Flow-FISH telomere length in peripheral blood leukocytes: very short telomeres (below the first percentile for age) is the key diagnostic finding
- Confirmatory molecular testing: panel or exome covering DKC1, TERC, TERT, and other telomere-maintenance genes
- Bone marrow biopsy to assess for hypocellularity / aplastic anemia and to exclude myelodysplastic syndrome
- HSCT (avoid radiation-based conditioning), surveillance
DYSKE = DYStal Kromosome Ends RApidly become Tiny: Dyskeratosis congenita affects the distal chromosome ends (telomeres).
Dys-keratosis = abnormal keratin (a protein found in nails and hair)
DKC: D looks like a nail (or the end of a finger), Kough (pulmonary fibrosis), Cytopenia (bone marrow failure) with Chest or Neck lacy pigmentation (CoNgenita).