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dyskeratosis congenita (Zinsser-Cole-Engman syndrome)
Epidemiology: rare
Pathology:
- defective telomere maintenance
- progressive bone marrow failure occurs in over 80% of cases & is the main cause of early mortality
- predisposition to malignancy
- pulmonary fibrosis
- hepatic fibrosis (cirrhosis)
Genetics:
- usually X-linked recessive inheritance
- autosomal dominant form associated with defects in TERT, TINF2
- autosomal recessive form
Clinical manifestations:
- classic triad not always observed
a) abnormal skin pigmentation
- atrophic, reticulated hyperpigmentation on the neck, thighs & trunk
b) nail dystrophy
c) leukoplakia of the oral & anal mucosa
- other features
- premature graying of hair
- osteoporosis
- epiphora
- dental abnormalities, missing teeth
- testicular atrophy
- mental retardation
- ataxia
- cough with dyspnea on exertion (case presentation) [3]
- short stature (case presentation) [3]
Laboratory:
- complete blood count (CBC)
- pancytopenia
- telomere length analysis in leukocytes below 1st percentile for age [3]
Radiology:
- CT of thorax (case presentation) [3]
- pulmonary fibrosis predominant in lower lobes
Complications:
- squamous cell carcinoma often develops from the leukoplakia
- pulmonary fibrosis
- early mortality from bone marrow failure
Related
hyperpigmentation
leukoplakia; leukokeratosis; leukoplasia
Specific
autosomal dominant dyskeratosis congenita (Scoggins type)
autosomal recessive dyskeratosis congenita
X-linked dyskeratosis congenita
General
telomere disease
Database Correlations
OMIM correlations
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY,
1994, pg 297-298
- OMIM :accession 127550
- Kelmenson DA, Hanley M (images)
Dyskeratosis Congenita.
N Engl J Med 2017; 376:1460. April 13, 2017
PMID: 28402761
http://www.nejm.org/doi/full/10.1056/NEJMicm1613081