X-linked dyskeratosis congenita

Epidemiology

• rare

Pathology

• progressive bone marrow failure occurs in >80% of cases

Genetics

• X-linked recessive
• defects in DKC1

Clinical manifestations

• triad of
  • reticulated skin hyperpigmentation
  • nail dystrophy
  • mucosal leukoplakia

Complications

• early mortality is often associated with
  • bone marrow failure,
  • infections
  • fatal pulmonary complications
  • malignancy

More general terms

• dyskeratosis congenita (Zinsser-Cole-Engman syndrome)

Additional terms

• H/ACA ribonucleoprotein complex subunit 4; dyskerin; nucleolar protein family A member 4; snoRNP protein DKC1; Nopp140-associated protein of 57 kDa; nucleolar protein NAP57; CBF5 homolog (DKC1, NOLA4)

Database

• OMIM: https://mirror.omim.org/entry/300126
• OMIM: https://mirror.omim.org/entry/305000