Living with Dyskeratosis congenita, autosomal dominant 1
A telomere-related genetic condition with nail, skin, and mouth changes and a higher risk of bone marrow and lung problems.
Understanding Dyskeratosis congenita, autosomal dominant 1
The classic triad is poorly formed nails, lacy dark skin on the upper chest or neck, and white patches in the mouth, though not everyone has all three. People have a higher risk of progressive bone marrow failure, myelodysplastic syndrome, leukemia, certain solid tumors, and lung scarring. Eye and dental problems can occur. Most people have normal development, but two variants include developmental delay. Severity ranges from mild to severe.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Poorly formed nails (nail dysplasia)
- Lacy dark skin on the upper chest or neck
- White patches in the mouth (oral leukoplakia)
- Bone marrow failure
- Lung scarring (pulmonary fibrosis)
- Eye and dental problems
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 describes this as a telomere biology disorder, and the condition's name notes autosomal dominant inheritance, meaning one changed copy of a gene can cause it. GARD does not list a specific gene here.
Also known as: dkca1; dyskeratosis congenita scoggins type; dyskeratosis congenita, autosomal dominant type 1; dyskeratosis congenita, scoggins type
Patient organizations
- Team TelomereDyskeratosis congenita, autosomal dominant 1 · United States
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Perspectives from people navigating life with Dyskeratosis congenita, autosomal dominant 1.
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