Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bo...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding dyskeratosis congenita reflects its rarity, affecting fewer than 10 individuals per million. This low prevalence leads to fewer systematic clinical studies and a lack of comprehensive phenotypic characterization. Ongoing research aims to better understand the condition and its genetic basis.
To navigate dyskeratosis congenita, consider consulting a hematologist with expertise in bone marrow disorders or a geneticist familiar with ectodermal dysplasias. Genetic counseling may also be beneficial to understand potential familial implications. While no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials to contribute to research and gain access to potential new treatments.
Currently, there are 8 active clinical trials investigating various aspects of dyskeratosis congenita. These trials may explore new treatment options or better understand the disease. You can find more information about these studies at ClinicalTrials.gov by searching for 'dyskeratosis congenita'. This research represents hope for improved management strategies in the future.
Actionable guidance for navigating care for dyskeratosis congenita
To navigate dyskeratosis congenita, consider consulting a hematologist with expertise in bone marrow disorders or a geneticist familiar with ectodermal dysplasias. Genetic counseling may also be beneficial to understand potential familial implications. While no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials to contribute to research and gain access to potential new treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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