dyskeratosis congenita (Zinsser-Cole-Engman syndrome)
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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
- abnormal skin pigmentation
- atrophic, reticulated hyperpigmentation on the neck, thighs & trunk
- nail dystrophy
- leukoplakia of the oral & anal mucosa
- abnormal skin pigmentation
- 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)
- 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
More general terms
More specific terms
- autosomal dominant dyskeratosis congenita (Scoggins type)
- autosomal recessive dyskeratosis congenita
- X-linked dyskeratosis congenita
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 297-298
- ↑ OMIM https://mirror.omim.org/entry/127550
- ↑ 3.0 3.1 3.2 3.3 3.4 Kelmenson DA, Hanley M (images) Dyskeratosis Congenita. N Engl J Med 2017; 376:1460. April 13, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28402761 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1613081