Question

What is dyskeratosis congenita and what is the cause of early death from this disorder? What are some of the clinical features of this disorder?

Answer 1

Dyskeratosis congenita, also known as Zinsser Engman- Cole syndrome is a rare, progressive congenital disorder with a highly variable phenotype. It is an inherited  bone marrow failure syndrome clinically characterised by the triard of reticulated skin hyperpigmentation, nail dystrophy and oral leukoplakia. Dyskeratosis congenita is charecterised by short telomers. it is a dosorder of poor telomere maintanance mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed ribosomopathy.

The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality. patients with Dyskeratosis congenita and bone marrow failure do not respond to immunosupressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.

the main clinical features are reticulated skin hyperpigmentation, nail dystrophy and oral leukoplakia, continous lacrimation due to artesia of lacrimal ducts, often thrombocytopenia,anaemia, testicular atrophy in the male carriers, and .predisposition to cancer. Most of the symptoms are characteristics of geriatrics and those carrying the most serious forms of the disease often have significantly shortened life spans.