Living with Dyskeratosis congenita, X-linked
An X-linked genetic condition with nail changes, skin color changes, and white patches in the mouth that can affect the bone marrow.
Understanding Dyskeratosis congenita, X-linked
Classic symptoms are abnormal skin coloring, nail differences, and white patches in the mouth. Telomeres are the protective caps on the ends of chromosomes, and short ones can cause bone marrow failure. Other symptoms can include lung and liver problems, hair loss, osteoporosis, and learning difficulties. Men may also have testicular problems. People are more likely to develop cancer.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poorly formed nails
- Lacy skin color changes
- White patches in the mouth (oral leukoplakia)
- Low platelet count (thrombocytopenia)
- Bone marrow failure
- Higher chance of certain cancers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Team Telomere
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the DKC1 gene cause this condition. It follows an X-linked pattern of inheritance.
Also known as: dkcx; dyskeratosis congenita, x-linked, x-linked recessive; hoyeraal hreidarsson syndrome; x-linked dyskeratosis congenita
Patient organizations
- Team TelomereDyskeratosis congenita, X-linked · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyskeratosis congenita, X-linked.
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- Eligibility is confirmed by the study team
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