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Information and medical research site about Dyskeratosis Congenita

Dyskeratosis congenita, a rare inherited disorder due to a deficit in telomerase activity


Dyskeratosis congenita (DC), or Zinsser-Cole-Engman syndrome, is a potentially lethal inherited disease, initially described as a dermatological disorder by Zinsser in 1906.

Clinical symptoms are very variable depending on patients. They evolve with time and diagnosis can initially be very difficult.
  
  • The classical form of DC is linked to the X chromosome. Affected individuals are therefore boys who display, at the latest at the age of 10, skin, phanerian and mucosal abnormalities: reticular patterns on the skin, melanodermia,  nail abnormalities (striated patterns, deformed nails, reduction in size or even absence of nails), mucosal leukoplakia, in particular in the mouth.
  
  • Early onset severe forms or later onset milder forms of the disease exist also.
  
  • Other clinical symptoms of the disease can be :
  
  • Growth retardation
  • Early loss of hair or appearance of grey hair
  • Abnormally abundant tears (epiphora)
  • Dental abnormalities
  • Early osteoporosis
  • Liver cirrhosis
  • Œsophageal strictures
  • Neurological disorders : mental retardation, microcephaly, cerebellar hypoplasia
  
  • More severe disorders and complications include 
  
  • The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable severity which is responsible for the appearance of anemia (drop in the level of red blood cells), of neutropenia (drop in the number of  polynuclear neutrophiles) and thrombocytopenia (drop in the levels of clotting agents).
  • Pulmonary fibrosis
  • Global immune deficiency
  • The occurrence, in nearly 10% of patients, of cancers (skin, mucosa, œsophagus) or malignant blood disorders (leukemias, lymphomas)
  
  • NB : the Hoyeraal-Hreidarsson syndrome is a very severe form of DC affecting very small infants and associating at least four of the following clinical symptoms : antennal growth failure, psychomotor retardation, microcephaly, cerbellar hypoplasia, very early onset of bone marrow failure and global immune deficiency. Transmission can either be X-linked or autosomal recessive.
Medical informations
Last modified: august 15,  2008