Living with Dyskeratosis congenita
A genetic condition that affects the nails, skin color, and mouth, and can affect the bone marrow and lungs.
Understanding Dyskeratosis congenita
Three characteristic features are poorly formed nails, lacy changes in skin color on the neck and chest, and white patches in the mouth. People with this condition are more likely to have bone marrow problems, in which the bone marrow doesn't make enough blood cells. There is also a higher risk of certain blood disorders and cancers and of lung scarring (pulmonary fibrosis). Some people have eye, dental, or hair differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poorly formed fingernails and toenails
- Lacy skin color changes (pigmentation)
- Bone marrow failure
- Dental problems and cavities
- Excess sweating
- Weakened immune system
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
Specialists who may be involved include allergy and immune system specialists, blood and bone marrow specialists, brain and nervous system specialists and cancer specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, Immune Deficiency Foundation
- 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 and other patient organizations
- 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 a person's genes cause this condition. It can be autosomal dominant, autosomal recessive, or X-linked, depending on the gene involved.
Also known as: cole-engmann-zinsser syndrome; congenital dyskeratosis; dc; dkc; dkc - dyskeratosis congenita; zinsser-cole-engman syndrome
Patient organizations
- Team TelomereDyskeratosis congenita · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyskeratosis congenita.
Explore research for Dyskeratosis congenita
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