Dyskeratosis Congenita Symptoms, Causes and Treatment News

What is Dyskeratosis Congenita? (Definition)

(Symptoms, Causes & Treatment)

According to the U.S. National Library of Medicine, Dyskeratosis congenita is a disorder with three characteristic features: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as “lacy”; and white patches inside the mouth (oralleukoplakia).

People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function and the ability for the bone marrow to produce enough new blood cells (aplastic anemia also known as bone marrow failure). People with dyskeratosis congenita are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.

See below for updated news and information regarding Dyskeratosis Congenita including new medical research, treatment options and advancements. 

Latest Dyskeratosis Congenita Research – Treatment News, Discoveries and Findings

No recent news regarding Dyskeratosis Congenita is available. 

Clinical Resources: Treatment Therapies & Guidelines

Johns Hopkins Medicine – Telomere Syndromes and Dyskeratosis Congenita

Dana-Farber | Boston Children’s Hospital

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Clinical Trials – Investigational Therapies

For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll Free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@mail.cc.nih.gov

For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search

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