Dyskeratosis Congenita Autosomal Dominant 3 C3151445
This telomere biology disorder causes abnormal skin findings, nail problems, and oral changes. Patients have increased risk of bone marrow failure and cancer. Treatment involves regular monitoring and supportive care.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic stem cell transplantation
Curative approach replacing defective bone marrow with healthy donor stem cells to restore normal hematopoiesis in patients with bone marrow failure, the primary life-threatening complication of dyskeratosis congenita.
Androgen therapy for cytopenias
Anabolic androgens such as oxymetholone or danazol may stimulate erythropoiesis and improve blood counts in patients with bone marrow failure who are not transplant candidates.
Additional treatment options
Cancer surveillance program
Regular examinations and imaging for early detection of malignancies, particularly head and neck, anogenital, and skin cancers which occur at elevated rates in dyskeratosis congenita.
monitoringPsychosocial support services
Mental health counseling and support addressing chronic disease burden, body image concerns from cutaneous manifestations, and quality of life impacts of this life-limiting condition.
psychologicalTransfusion support
Red blood cell and platelet transfusions to manage symptomatic anemia and thrombocytopenia while awaiting transplant or when other treatments are contraindicated.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Dyskeratosis Congenita Autosomal Dominant 3 C3151445?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Dyskeratosis Congenita Autosomal Dominant 3 C3151445. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy