FaCD Online Syndrome Fact Sheet

Last updated: 23 Apr 2009

Name: Congenital Dyskeratosis

Synonym: Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita

Mode of Inheritance: XL/ AD/ AR

OMIM number: 305000   127550   224230  


DKC1, mapped to Xq28
TERC, mapped to 3q21-q28
TERT, mapped to 5p15.33
TINF2, mapped to 4q12

Tumor features

anal cancer
colon cancer
esophageal cancer
gastric cancer
laryngeal cancer
leukemia, acute myeloid (AML, incl. ANLL)
myelodysplastic syndrome (MDS)
nasopharyngeal cancer
oral cancer
oropharyngeal cancer
rectal cancer
skin cancer, squamous cell
tongue cancer

Tumor features (possible)

cervical cancer
hepatic adenomas
Hodgkin disease (Hodgkin's lymphoma)
lung/bronchial cancer
non-Hodgkin lymphoma
skin cancer, basal cell

Non-tumor features

anemia, aplastic
cervix, leukoplakia of the
cutaneous telangiectasia
developmental delay/mental deficiency/mental retardation
eye, blepharitis
facial hyperpigmentation
hyperpigmentation of the skin
hypopigmentation of the skin
nails, dystrophic
oropharyngeal leukoplakia
palmoplantar hyperkeratosis
rectal leukoplakia
skin, friction bullae of


This entry summarizes a group of disorders. They share in common progressive lesions of skin, mucosae and nails. Blepharitis and conjunctivitis develop. Palms and soles become hyperkeratotic. Friction bullae may develop. Hyperpigmentation (which may be reticulated), hypopigmentation and telangiectasia appear mainly on the trunk, neck, face and upper-thighs. Leukoplakia occurs, mainly in the oropharynx, which may progress into malignancies. Nails are dystrophic, atrophic or absent. Thinning alopecia on scalp, eyebrows and eyelashes is often present. Pancytopenia may occur (X-linked type), as well as immune deficiency and aplastic anemia (both in the autosomal dominant type). Mild to moderate mental retardation is a feature in approximately 50% of the patients.

Cancer risk is high. Cumulative incidence of cancer by age 50 is approximately 40-50%, median age at cancer diagnosis is 29 years (literature cases) and 37 years (US-NCI cohort cases)[4]. The most frequent solid cancers are head and neck squamous cell cancer (40%, mostly of the tongue), followed by skin and anorectal cancer[4]. Cumulative risk of developing MDS was estimated at 33%[4]. A wide range of tmors has been reported: squamous cell cancer of the tongue, oropharynx, nasopharynx, esophagus, cervix and hands, as well as anorectal cancer, AML, Hodgkin disease, NHL, gastric cancer, pancreatic and liver adenomas, larynx and lung/bronchial cancer and retinoblastoma[1-4].


[1] Savage SA, Alter BP.Dyskeratosis congenita. Hematol Oncol Clin North Am. 2009 Apr;23(2):215-31.
[2] Shahidi NT. Fanconi anemia, dyskeratosis congenita, and WT syndrome. Am J Med Genet Suppl 1987; 3:263-278.
[3] Vulliamy T, Dokal I. Dyskeratosis congenita. Seminars in hematology 2006; 43(3):157-66.
[4] Alter BP, Giri N, Savage SA, Rosenberg PS.Cancer in dyskeratosis congenita. Blood. 2009 Apr 7. [Epub ahead of print]