Dyskeratosis congenita

Also known as: Zinsser–Cole–Engman syndrome

Telomere biology disorder with mucocutaneous triad and marrow failure.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected, X-linked more severe; Female: affected; Children: yes, mucocutaneous signs in first decade
Gene(s) involved: ACD, CTC1, DKC1, NAF1, NHP2, NOP10, PARN, RTEL1, STN1, TERC, TERT, TINF2, WRAP53

Etiology & mechanism

Telomerase and shelterin dysfunction cause premature telomere shortening.

Gene(s) involved (13)

ACDCTC1DKC1NAF1NHP2NOP10PARNRTEL1STN1TERCTERTTINF2WRAP53

Symptoms & signs (8)

abnormal skin pigmentationbone marrow failurecancer predispositionliver diseasenail dystrophyoral leukoplakiapremature grayingpulmonary fibrosis

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