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autosomal recessive dyskeratosis congenita
Epidemoiology: rare
Pathology:
- defective telomere maintenance
- progressive bone marrow failure
Genetics:
- associated with defects in NOLA3
- Gene locus: 15q14-q15
- associated with defects in WRAP53 (type 3) [2] common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, & liver fibrosis among others early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy
Clinical manifestations:
- nail dystrophy
- dyskeratosis
- reticulated skin hyperpigmentation
- nail dystrophy
- mucosal leukoplakia
- premature graying (variable)
- osteoporosis (variable)
- pulmonary fibrosis (variable)
- cirrhosis (variable)
Laboratory:
- complete blood count:
- pancytopenia
- thrombocytopenia
Complications:
- early mortality is often associated with
a) bone marrow failure
b) infections
c) fatal pulmonary complications
d) malignancy
General
dyskeratosis congenita (Zinsser-Cole-Engman syndrome)
Database Correlations
OMIM correlations
References
- OMIM :accession 224230
- OMIM :accession 613988