autosomal recessive dyskeratosis congenita

Introduction

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) 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
  • bone marrow failure
  • infections
  • fatal pulmonary complications
  • malignancy

More general terms

• dyskeratosis congenita (Zinsser-Cole-Engman syndrome)

Database

• OMIM: https://mirror.omim.org/entry/224230
• OMIM: https://mirror.omim.org/entry/613988