Jun 6, 2025
A. Skin Manifestations
B. Bone Marrow Failure
C. Others
It is a group of inherited disorders characterized by progressive, rapid telomere shortening and clinically manifesting with dermatological manifestation and BMFS. Genes commonly implicated
At the end of chromosomes there are non-coding regions known as telomeres. Telomeres are rich in guanine residues. As cells divide the telomere length goes on progressively decreasing. If the critical length is decreased with each cell cycle. There is a time when the cell undergoes apoptosis and eventually dies. In the case of stem cells as well as hematopoietic cells or germ cells, there is an enzyme called telomerase, it keeps the length of the telomere intact that's why they continue to remain active and keep dividing.
If the telomerase enzyme won't function these cells gradually will get smaller and will not function properly. Mutation in one or more genes involved in telomere lengthening which leads to progressive and rapid telomere shortening. Especially in hematopoietic stem cells and once telomeres shorten beyond a certain point it leads to apoptosis of HPC leading to BM failure syndrome.
The mortality rate associated with HSCT is higher in DC than that observed with other
IBMFSs and likely caused by the high level of pulmonary vascular complications seen in
the patients with DC that are related to the underlying telomere maintenance defects.
The major cause of death is BM failure, followed by complications of HSCT, cancers, fatal pulmonary problems, and GIT bleeding. Median survival age in children is 30 yrs.
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