Epidermolysis bullosa is a rare disease causing soft skin, blisters, and sores. It is caused by a mutated gene in body that affects protein production which making it easier for the skin to tear and blister. Symptoms usually appear during infancy or birth and severity ranges from mild to severe. There is no cure but scientists are researching treatments. Doctors treat symptoms, manage pain, heal wounds, and help topatients cope.
Epidemiology
Epidermolysis bullosa also known as epidermolysis bullosa simplex, junctional epidermolysis bullosa, dominant dystrophic epidermolysis bullosa, and recessive dystrophic epidermolysis bullosa which is prevalent in the United States at 19.6 and 11.07 cases per 1 million live births. Its prevalence varies across countries with milder forms often unnoticed until adulthood or remaining unclear. The disease typically manifests at birth or soon after and its prevalence varies across countries.
Anatomy
Pathophysiology
Epidermolysis bullosa is a family of bullous disorders caused by gene mutations which is categorized into dystrophic, kindler, junctional, and simplex. Kindler syndrome is a rare condition with blistering at any level.
Etiology
The BMZ in stratified squamous epithelial tissues is composed of keratin filaments, hemidesmosomes, and type VII collagen-containing anchoring fibrils. Keratin filaments are alpha-helical rods with nonhelical interruptions while hemidesmosomes contain intracellular proteins like plectin and BP230. Anchoring fibrils are a major component of these fibrils by taking the shape of a triple helix and undergoing lateral associations with antiparallel dimers. Type VII collagen is a major constituent of these fibrils which wraps around interstitial collagen fibrils in the dermis before reinserting onto the lamina densa. Mutations in genes coding for keratins 5 and 14 cause epidermolysis bullosa simplex a heterogeneous group of diseases with variable molecular etiology causing blistering in the lamina lucida with variable hemidesmosomal abnormalities.
Genetics
Prognostic Factors
Epidermolysis bullosa is a lifelong disease with milder forms improving with age with severe forms increasing mortality risk. Metastatic squamous cell carcinoma is the most common cause of death in patients aged 15-35. The overall mortality rate is 0.103 death per 100,000 population.
Clinical History
Autosomal dominant and recessiveness are genetic disorders causing blister formation in response to minimal friction or trauma. Symptoms include edema, nail changes, dental issues, eye problems, anemia, infections, malnutrition, scarring, contractures, and squamous cell cancer. EB affects quality of life with pain, discomfort, and physical limitations.
Physical Examination
General Appearance
Skin Examination
Mucous Membrane Examination
Nail Examination
Hair Examination
Scalp Examination
Assessment of Mobility and Joint Function
Wound Care and Infection Signs
Growth and Development
Pain and Quality of Life
Family History
Age group
Associated comorbidity
Mitten-hand deformity (Pseudosyndactyly)
Mucosal complications
Squamous cell carcinoma
Associated activity
Acuity of presentation
Differential Diagnoses
Bullous pemphigoid
Dyshidrotic eczema
Friction blisters
Insect bites
Pemphigus vulgaris
Epidermolysis bullosa acquisita
BSLE (bullous systemic lupus erythematosus)
Linear IgA dermatosis
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Treatment paradigm
Medical care: FDA has approved the first topical gene therapy for wounds in patients with dystrophic epidermolysis bullosa. This cutaneous blistering disorder is due to mutations in the COL7A1 gene encoding collagen type VII alpha 1 chain. Beremagene geperpavec is a topical gel that transduces keratinocytes and fibroblasts for the production of human COL7A1, a protein integral to the integrity of skin. The treatment was based on a phase 3 GEM clinical trial. Wound healing is slowed by foreign bodies, bacteria, nutritional deficiencies, tissue anoxia, and advanced age.
Surgical care: Esophageal dilatation and colonic interposition are helpful in the management of esophageal strictures and providing nutrition in those with advanced disease. Surgical correction of hand deformity due to the Hallopeau-Siemens dystrophic type of epidermolysis bullosa is possible, although recurrent deformity is common. Invasive aggressive SCC is a feared complication of epidermolysis bullosa, and excision of the carcinoma is indicated. The endotracheal tube is inserted with maximum precaution; skin equivalents are used to enhance wound healing and quality of life in patients with epidermolysis bullosa. Claims of permanent cure for allografts are not supported by any evidence.
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
Photodynamic Therapy
Stem Cell Transplant
Targeted Therapy
Palliative Care
Use of Gene therapies
Beremagenegeperpavec: This is a gene therapy used in treating wounds in children of six months and above suffering from dystrophic epidermolysis bullosa possessing mutations in the COL7A1 gene chain (collagen type VII alpha 1). It is a topical formulation.
Use of wound care
Birch triterpenes:This is used in treating dystrophic and junctional epidermolysis in patients aged six months and older.
intervention-with-a-procedure
GI management
Esophageal dilation has been helpful in the relief of strictures. In more advanced diseases, colonic interposition has been proved efficacious in removing esophageal strictures. Gastrostomy tube placement has also been shown to be effective in providing nutrition to patients with esophageal strictures.
Surgical restoration of the hand
Mitten deformity of the hand is a common feature in patients with the Hallopeau-Siemens subtype of dystrophic epidermolysis bullosa. Repeated blistering and scarring causes fusion of web spaces which eventually causes loss of fine manipulative skills and digital prehension. This can be corrected with surgical procedures, but mitten pseudosyndactyly recurs quite frequently, usually earlier in the dominant hand. Prolonged use of splints in the interphalangeal spaces at night seems to delay recurrence.
Surgical excision of SCC
Squamous cell carcinoma is a complication of recessively inherited epidermolysis bullosa. The carcinoma once detected should be excised. Excision has been carried out using Mohs techniques and non-Mohs surgical techniques.
Endotracheal tube placement
This procedure should be carried out with great caution in patients with epidermolysis bullosa. If possible consult an anesthesiologist who has experience in dealing with such patients.
The management involves clinical evaluation, genetic testing, skin biopsy, wound care, and cancer surveillance. Multidisciplinary care, psychosocial support, and advances in gene therapy are crucial for immediate care and long-term health maintenance.
The topical gene therapy is recommended for the management of wounds in patients aged greater than six months who have dystrophic epidermolysis bullosa and carry mutation(s) in the COL7A1 gene, responsible for the production of collagen type VII alpha 1 chain
The maximum dosage weekly is 3.2 x 10⁹ (1.6 mL)
Administer the gel to wounds until they have completely healed before handling new wound(s)
Not all wounds may receive gel application during every treatment session
In case of wound reopening, give priority to the weekly treatment of previously treated wounds
A topical gel is prescribed for the management of wounds in patients with dystrophic and junctional epidermolysis bullosa (EB)
Apply a 1 mm layer exclusively to the wound surface that is affected
Avoid rubbing in the gel; instead, cover the wound with a dressing that is sterile and non-adhesive
Or Direct application of the gel to the dressing to ensure direct contact with the wound
Continue reapplying to cleansed wounds during dressing changes until the wound achieves healing
If the treated wound becomes infected, halt treatment until the infection is resolved
A topical gel is prescribed for the management of wounds in patients (> 6 months) with dystrophic and junctional epidermolysis bullosa (EB)
Safety and efficacy are not seen in pediatrics < 6 months
Apply a 1 mm layer exclusively to the wound surface that is affected
Avoid rubbing in the gel; instead, cover the wound with a dressing that is sterile and non-adhesive
Or Direct application of the gel to the dressing to ensure direct contact with the wound
Continue reapplying to cleansed wounds during dressing changes until the wound achieves healing
If the treated wound becomes infected, halt treatment until the infection is resolved
Epidermolysis bullosa is a rare disease causing soft skin, blisters, and sores. It is caused by a mutated gene in body that affects protein production which making it easier for the skin to tear and blister. Symptoms usually appear during infancy or birth and severity ranges from mild to severe. There is no cure but scientists are researching treatments. Doctors treat symptoms, manage pain, heal wounds, and help topatients cope.
Epidermolysis bullosa also known as epidermolysis bullosa simplex, junctional epidermolysis bullosa, dominant dystrophic epidermolysis bullosa, and recessive dystrophic epidermolysis bullosa which is prevalent in the United States at 19.6 and 11.07 cases per 1 million live births. Its prevalence varies across countries with milder forms often unnoticed until adulthood or remaining unclear. The disease typically manifests at birth or soon after and its prevalence varies across countries.
Epidermolysis bullosa is a family of bullous disorders caused by gene mutations which is categorized into dystrophic, kindler, junctional, and simplex. Kindler syndrome is a rare condition with blistering at any level.
The BMZ in stratified squamous epithelial tissues is composed of keratin filaments, hemidesmosomes, and type VII collagen-containing anchoring fibrils. Keratin filaments are alpha-helical rods with nonhelical interruptions while hemidesmosomes contain intracellular proteins like plectin and BP230. Anchoring fibrils are a major component of these fibrils by taking the shape of a triple helix and undergoing lateral associations with antiparallel dimers. Type VII collagen is a major constituent of these fibrils which wraps around interstitial collagen fibrils in the dermis before reinserting onto the lamina densa. Mutations in genes coding for keratins 5 and 14 cause epidermolysis bullosa simplex a heterogeneous group of diseases with variable molecular etiology causing blistering in the lamina lucida with variable hemidesmosomal abnormalities.
Epidermolysis bullosa is a lifelong disease with milder forms improving with age with severe forms increasing mortality risk. Metastatic squamous cell carcinoma is the most common cause of death in patients aged 15-35. The overall mortality rate is 0.103 death per 100,000 population.
Autosomal dominant and recessiveness are genetic disorders causing blister formation in response to minimal friction or trauma. Symptoms include edema, nail changes, dental issues, eye problems, anemia, infections, malnutrition, scarring, contractures, and squamous cell cancer. EB affects quality of life with pain, discomfort, and physical limitations.
General Appearance
Skin Examination
Mucous Membrane Examination
Nail Examination
Hair Examination
Scalp Examination
Assessment of Mobility and Joint Function
Wound Care and Infection Signs
Growth and Development
Pain and Quality of Life
Family History
Mitten-hand deformity (Pseudosyndactyly)
Mucosal complications
Squamous cell carcinoma
Bullous pemphigoid
Dyshidrotic eczema
Friction blisters
Insect bites
Pemphigus vulgaris
Epidermolysis bullosa acquisita
BSLE (bullous systemic lupus erythematosus)
Linear IgA dermatosis
Treatment paradigm
Medical care: FDA has approved the first topical gene therapy for wounds in patients with dystrophic epidermolysis bullosa. This cutaneous blistering disorder is due to mutations in the COL7A1 gene encoding collagen type VII alpha 1 chain. Beremagene geperpavec is a topical gel that transduces keratinocytes and fibroblasts for the production of human COL7A1, a protein integral to the integrity of skin. The treatment was based on a phase 3 GEM clinical trial. Wound healing is slowed by foreign bodies, bacteria, nutritional deficiencies, tissue anoxia, and advanced age.
Surgical care: Esophageal dilatation and colonic interposition are helpful in the management of esophageal strictures and providing nutrition in those with advanced disease. Surgical correction of hand deformity due to the Hallopeau-Siemens dystrophic type of epidermolysis bullosa is possible, although recurrent deformity is common. Invasive aggressive SCC is a feared complication of epidermolysis bullosa, and excision of the carcinoma is indicated. The endotracheal tube is inserted with maximum precaution; skin equivalents are used to enhance wound healing and quality of life in patients with epidermolysis bullosa. Claims of permanent cure for allografts are not supported by any evidence.
Dermatology, General
Beremagenegeperpavec: This is a gene therapy used in treating wounds in children of six months and above suffering from dystrophic epidermolysis bullosa possessing mutations in the COL7A1 gene chain (collagen type VII alpha 1). It is a topical formulation.
Dermatology, General
Birch triterpenes:This is used in treating dystrophic and junctional epidermolysis in patients aged six months and older.
Dermatology, General
GI management
Esophageal dilation has been helpful in the relief of strictures. In more advanced diseases, colonic interposition has been proved efficacious in removing esophageal strictures. Gastrostomy tube placement has also been shown to be effective in providing nutrition to patients with esophageal strictures.
Surgical restoration of the hand
Mitten deformity of the hand is a common feature in patients with the Hallopeau-Siemens subtype of dystrophic epidermolysis bullosa. Repeated blistering and scarring causes fusion of web spaces which eventually causes loss of fine manipulative skills and digital prehension. This can be corrected with surgical procedures, but mitten pseudosyndactyly recurs quite frequently, usually earlier in the dominant hand. Prolonged use of splints in the interphalangeal spaces at night seems to delay recurrence.
Surgical excision of SCC
Squamous cell carcinoma is a complication of recessively inherited epidermolysis bullosa. The carcinoma once detected should be excised. Excision has been carried out using Mohs techniques and non-Mohs surgical techniques.
Endotracheal tube placement
This procedure should be carried out with great caution in patients with epidermolysis bullosa. If possible consult an anesthesiologist who has experience in dealing with such patients.
Dermatology, General
The management involves clinical evaluation, genetic testing, skin biopsy, wound care, and cancer surveillance. Multidisciplinary care, psychosocial support, and advances in gene therapy are crucial for immediate care and long-term health maintenance.
Epidermolysis bullosa is a rare disease causing soft skin, blisters, and sores. It is caused by a mutated gene in body that affects protein production which making it easier for the skin to tear and blister. Symptoms usually appear during infancy or birth and severity ranges from mild to severe. There is no cure but scientists are researching treatments. Doctors treat symptoms, manage pain, heal wounds, and help topatients cope.
Epidermolysis bullosa also known as epidermolysis bullosa simplex, junctional epidermolysis bullosa, dominant dystrophic epidermolysis bullosa, and recessive dystrophic epidermolysis bullosa which is prevalent in the United States at 19.6 and 11.07 cases per 1 million live births. Its prevalence varies across countries with milder forms often unnoticed until adulthood or remaining unclear. The disease typically manifests at birth or soon after and its prevalence varies across countries.
Epidermolysis bullosa is a family of bullous disorders caused by gene mutations which is categorized into dystrophic, kindler, junctional, and simplex. Kindler syndrome is a rare condition with blistering at any level.
The BMZ in stratified squamous epithelial tissues is composed of keratin filaments, hemidesmosomes, and type VII collagen-containing anchoring fibrils. Keratin filaments are alpha-helical rods with nonhelical interruptions while hemidesmosomes contain intracellular proteins like plectin and BP230. Anchoring fibrils are a major component of these fibrils by taking the shape of a triple helix and undergoing lateral associations with antiparallel dimers. Type VII collagen is a major constituent of these fibrils which wraps around interstitial collagen fibrils in the dermis before reinserting onto the lamina densa. Mutations in genes coding for keratins 5 and 14 cause epidermolysis bullosa simplex a heterogeneous group of diseases with variable molecular etiology causing blistering in the lamina lucida with variable hemidesmosomal abnormalities.
Epidermolysis bullosa is a lifelong disease with milder forms improving with age with severe forms increasing mortality risk. Metastatic squamous cell carcinoma is the most common cause of death in patients aged 15-35. The overall mortality rate is 0.103 death per 100,000 population.
Autosomal dominant and recessiveness are genetic disorders causing blister formation in response to minimal friction or trauma. Symptoms include edema, nail changes, dental issues, eye problems, anemia, infections, malnutrition, scarring, contractures, and squamous cell cancer. EB affects quality of life with pain, discomfort, and physical limitations.
General Appearance
Skin Examination
Mucous Membrane Examination
Nail Examination
Hair Examination
Scalp Examination
Assessment of Mobility and Joint Function
Wound Care and Infection Signs
Growth and Development
Pain and Quality of Life
Family History
Mitten-hand deformity (Pseudosyndactyly)
Mucosal complications
Squamous cell carcinoma
Bullous pemphigoid
Dyshidrotic eczema
Friction blisters
Insect bites
Pemphigus vulgaris
Epidermolysis bullosa acquisita
BSLE (bullous systemic lupus erythematosus)
Linear IgA dermatosis
Treatment paradigm
Medical care: FDA has approved the first topical gene therapy for wounds in patients with dystrophic epidermolysis bullosa. This cutaneous blistering disorder is due to mutations in the COL7A1 gene encoding collagen type VII alpha 1 chain. Beremagene geperpavec is a topical gel that transduces keratinocytes and fibroblasts for the production of human COL7A1, a protein integral to the integrity of skin. The treatment was based on a phase 3 GEM clinical trial. Wound healing is slowed by foreign bodies, bacteria, nutritional deficiencies, tissue anoxia, and advanced age.
Surgical care: Esophageal dilatation and colonic interposition are helpful in the management of esophageal strictures and providing nutrition in those with advanced disease. Surgical correction of hand deformity due to the Hallopeau-Siemens dystrophic type of epidermolysis bullosa is possible, although recurrent deformity is common. Invasive aggressive SCC is a feared complication of epidermolysis bullosa, and excision of the carcinoma is indicated. The endotracheal tube is inserted with maximum precaution; skin equivalents are used to enhance wound healing and quality of life in patients with epidermolysis bullosa. Claims of permanent cure for allografts are not supported by any evidence.
Dermatology, General
Beremagenegeperpavec: This is a gene therapy used in treating wounds in children of six months and above suffering from dystrophic epidermolysis bullosa possessing mutations in the COL7A1 gene chain (collagen type VII alpha 1). It is a topical formulation.
Dermatology, General
Birch triterpenes:This is used in treating dystrophic and junctional epidermolysis in patients aged six months and older.
Dermatology, General
GI management
Esophageal dilation has been helpful in the relief of strictures. In more advanced diseases, colonic interposition has been proved efficacious in removing esophageal strictures. Gastrostomy tube placement has also been shown to be effective in providing nutrition to patients with esophageal strictures.
Surgical restoration of the hand
Mitten deformity of the hand is a common feature in patients with the Hallopeau-Siemens subtype of dystrophic epidermolysis bullosa. Repeated blistering and scarring causes fusion of web spaces which eventually causes loss of fine manipulative skills and digital prehension. This can be corrected with surgical procedures, but mitten pseudosyndactyly recurs quite frequently, usually earlier in the dominant hand. Prolonged use of splints in the interphalangeal spaces at night seems to delay recurrence.
Surgical excision of SCC
Squamous cell carcinoma is a complication of recessively inherited epidermolysis bullosa. The carcinoma once detected should be excised. Excision has been carried out using Mohs techniques and non-Mohs surgical techniques.
Endotracheal tube placement
This procedure should be carried out with great caution in patients with epidermolysis bullosa. If possible consult an anesthesiologist who has experience in dealing with such patients.
Dermatology, General
The management involves clinical evaluation, genetic testing, skin biopsy, wound care, and cancer surveillance. Multidisciplinary care, psychosocial support, and advances in gene therapy are crucial for immediate care and long-term health maintenance.
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