Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding epidermolysis bullosa is limited due to its rarity and the complexity of its clinical presentation. As EB affects a relatively small population, extensive systematic studies have not been conducted, leading to gaps in understanding its genetic basis and clinical features. This lack of comprehensive data can be frustrating for patients and families seeking information and support.
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
There are currently 41 active clinical trials focused on epidermolysis bullosa, exploring various treatment options. Among the orphan drugs designated for EB, notable candidates include birch triterpenes and several investigational therapies such as stem cell treatments and genetically modified epidermal stem cells. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=epidermolysis%20bullosa.
Actionable guidance for navigating care for epidermolysis bullosa
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding epidermolysis bullosa is limited due to its rarity and the complexity of its clinical presentation. As EB affects a relatively small population, extensive systematic studies have not been conducted, leading to gaps in understanding its genetic basis and clinical features. This lack of comprehensive data can be frustrating for patients and families seeking information and support.
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
There are currently 41 active clinical trials focused on epidermolysis bullosa, exploring various treatment options. Among the orphan drugs designated for EB, notable candidates include birch triterpenes and several investigational therapies such as stem cell treatments and genetically modified epidermal stem cells. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=epidermolysis%20bullosa.
Actionable guidance for navigating care for epidermolysis bullosa
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding epidermolysis bullosa is limited due to its rarity and the complexity of its clinical presentation. As EB affects a relatively small population, extensive systematic studies have not been conducted, leading to gaps in understanding its genetic basis and clinical features. This lack of comprehensive data can be frustrating for patients and families seeking information and support.
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
There are currently 41 active clinical trials focused on epidermolysis bullosa, exploring various treatment options. Among the orphan drugs designated for EB, notable candidates include birch triterpenes and several investigational therapies such as stem cell treatments and genetically modified epidermal stem cells. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=epidermolysis%20bullosa.
Actionable guidance for navigating care for epidermolysis bullosa
To navigate your care effectively, consider consulting with a dermatologist who specializes in genetic skin disorders, particularly those with experience in epidermolysis bullosa. Additionally, explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides valuable information and support. Participating in clinical trials may also offer access to cutting-edge treatments, so inquire about eligibility for ongoing studies. Genetic counseling could be beneficial, especially for family planning and understanding inheritance patterns.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
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.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 19 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.