Living with Dyskeratosis congenita, autosomal recessive 1
An inherited telomere-related condition that can affect the skin, nails, mouth, bone marrow, lungs, eyes, and teeth.
Understanding Dyskeratosis congenita, autosomal recessive 1
It can involve the skin, nails, mouth, bone marrow, lungs, eyes, and teeth. A classic combination is abnormal nails, lace-like darker skin on the upper chest or neck, and white patches in the mouth, though not everyone has all three. There is a higher risk of bone marrow failure, certain blood cancers, solid tumors, and lung scarring. Severity ranges widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone marrow failure or aplastic anemia
- Low blood cell counts (pancytopenia)
- Poorly formed nails
- Lacy darker skin (reticular hyperpigmentation)
- Thick skin on the palms and soles
- Watery eyes or blocked tear ducts
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 it is an autosomal recessive condition, meaning a child inherits a changed copy of the gene from each parent. It affects how the body maintains telomeres.
Also known as: dkcb1; dyskeratosis congenita, autosomal recessive type 1
Patient organizations
- Team TelomereDyskeratosis congenita, autosomal recessive 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyskeratosis congenita, autosomal recessive 1.
Explore research for Dyskeratosis congenita, autosomal recessive 1
Explore actively recruiting Dyskeratosis congenita, autosomal recessive 1 studies with HealthSpark.
Find actively recruiting studies for Dyskeratosis congenita, autosomal recessive 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Dyskeratosis congenita, autosomal recessive 1 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Dyskeratosis congenita, autosomal recessive 1
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Dyskeratosis congenita, autosomal recessive 1 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.