What Is Epidermolysis Bullosa
What disease is epidermolysis bullosa?
Epidermolysis bullosa (EB) is a chronic non-inflammatory bullous disease characterized by the formation of bullae in the skin and mucosa, which are susceptible to mechanical damage. It is characterized by significant mechanical fragility of the epithelial tissue and the appearance of blisters and erosion after minor trauma.
It is usually classified into two types: hereditary (congenital) and acquired (epidermolysis bullosa acquisita (EBA).
At present, there is no effective treatment plan, and careful nursing to avoid infection is the key.
What are the types of epidermolysis bullosa?
Hereditary epidermolysis bullosa is a group of hereditary dermatoses characterized by the appearance of vesicular bullae after mild trauma to the skin mucosa. According to the location of the blisters under the transmission electron microscope, they were divided into three types:
- Simple epidermolysis bullosa (simplex EB, EBS), with blisters or fissures located within the epidermis;
- Borderline epidermolysis bullosa (JEB), in which the bullae were located in the transparent plate of the basement membrane band;
- Epidermolysis bullosa (DEB) caused by malnutrition, also known as dermal epidermolysis bullosa, blisters or fissures occur below the dense plate of the basement membrane belt.
Acquired epidermolysis bullosa (EBA)The patient is an autoimmune disease. The etiology is unknown, and it has been found to be related to the production of anti-Type VII collagen antibody and positive HLA-DR2 in vivo.
Is epidermolysis bullosa common?
The incidence of hereditary epidermolysis bullosa is 1 in 50 000. There is currently no description of the incidence of epidermolysis bullosa acquisita.
What are the characteristics of the onset age of epidermolysis bullosa?
- Hereditary epidermolysis bullosa is more common than infantile epidermolysis bullosa and occurs. The prognosis of EBS is good, while that of JEB and DEB is poor.
- Epidermolysis bullosa acquisita usually occurs in the elderly.
What Is The Cause Of Epidermolysis Bullosa
What are the causes of epidermolysis bullosa?
- Epidermolysis bullosa acquisita (EBA) is an autoimmune disease. The etiology is unknown, and it has been found to be related to the production of anti-Type VII collagen antibody and positive HLA-DR2 in vivo.
- Hereditary epidermolysis bullosa is caused by synthetic disorder or structural abnormality of structural proteins in epidermis and basement membrane band due to gene mutation encoding structural protein components, leading to the generation of blisters in different anatomical sites.。
- EBS is associated with gene mutations encoding keratin 5 and 14;
- JEB is associated with gene mutations that encode laminin 5, type Ⅹ Ⅶ collagen (BPAG2), and others.
- DEB is associated with mutations in the gene encoding type VII collagen (COL7A1).
What Are The Symptoms Of Epidermolysis Bullosa
What are the manifestations of epidermolysis bullosa?
A common feature of each type of epidermolysis bullosa is an increased fragility of the skin, i.e., the appearance of vesicular bullae following mild friction of the skin mucosa.
Skin lesions tend to occur in the hands, feet, elbows, knees, hips and other friction parts, can also be generalized hair whole body, some with scars, atrophy, nail malnutrition or skin manifestations, or even disability or death.
- Hereditary (congenital) epidermolysis bullosa:
Simple epidermolysis bullosa
- Most of them are inherited by autosomal dominant trait, which is the mildest type, and usually leaves no scar after cure. Usually within 1 year of age.
- It often occurs after compression or mechanical injury, and before the bullae appear, the affected skin may present with pale erythema, mild pruritus, or a burning sensation, followed by limpid, tense bullae, and occasionally blood bullae. Bullae rupture to form erosion, but easy to heal.
- In the absence of infection complications, no scars are left. Exposed sites, hands and feet, knees, elbows and neck were the most frequently occurred sites, especially the hands and feet.
- The oral cavity, genital organs and perianal mucosa can be slightly affected in about 2% of patients. General physical development is normal.
Borderline epidermolysis bullosa
- It is rare and autosomal recessive. There were extensive blisters, bullae, erosion and scabbing immediately after birth, and rhomboidal scars appeared after recovery. Oral mucosa often contained erosion, ulcer and scar, which made it difficult to open mouth.
- Our patients are generally in poor condition with growth retardation and often severe anemia, with a poor prognosis, and most of them die within 2 years of age.
Epidermolysis bullosa of malnutrition type; Divided into two kinds of autosomal dominant and recessive inheritance。
- Babies with dominant DEB develop diseases in the early stage or childhood, and the damage heals slowly. After healing, the babies have rhomboidal or proliferative scars, which are prone to occur in the four limbs. Epidermal cysts and miliary papules are common, and the mucosa is involved in a few cases.
- Patients with recessive DEB have a more severe disease. They present with generalized blisters, bullae and erosion at birth, some of which are blood blisters with Nissl's sign (+), and the skin lesions slowly heal, leaving atrophic scars and miliary papules. Severe scars often cause knee, elbow, wrist and ankle flexion contracture and dysfunction. Mucosal involvement is most common and severe with recurrent esophageal bullae.
- Esophageal lesions occur in early childhood but are more pronounced in adulthood, with dysphagia, often leading to aspiration pneumonia. Patients often lose their body fluids and protein due to generalized erosion, and die mostly in childhood or adolescence from secondary infection, sepsis, pneumonia, or malnutrition.
- Epidermolysis bullosa acquisita: EBA mostly occurs in the elderly. The skin lesions are located on the side of fingers, feet, elbows and knees, and vulnerable to trauma. The skin lesions are blisters, bullae, and erosion formed on the skin without inflammatory reaction. The cured skin can leave atrophic scars, with millet papules visible. Some patients have hair and nail damage, as well as mucosal damage.
What are the complications of epidermolysis bullosa?
- 50%–80% of dystrophic epidermolysis bullosa patients develop squamous cell carcinoma in chronic erosive area, which is easy to invade and metastasize.
- Borderline epidermolysis bullosa, often with concomitant tracheal blisters, stenosis, or obstruction. Growth retardation, often with severe anemia. Children often die from sepsis, multiple organ failure, and malnutrition.
How To Check For Epidermolysis Bullosa
How is epidermolysis bullosa diagnosed?
The diagnosis by a general doctor is without difficulty based on typical medical history, family history, clinical manifestations (skin lesions), histopathological results and projection electron microscopy. Sometimes combined with genetic diagnosis.
What tests are needed in patients with epidermolysis bullosa?
Histopathology: Under the microscope, basal cell edema, liquefaction and degeneration were observed, together with subepithelial blisters, and occasionally inflammatory cell infiltration within the blisters and in the superficial dermis.
The transmission electron microscope can further determine the precise location of the blister.
When anemia exists, the red blood cell count and hemoglobin amount can be seen from peripheral hemogram. When complicated with infection, the white blood cell count and neutrophil count of peripheral hemogram are remarkably increased; Severe infection with water and electrolyte disorders, should do blood electrolytes, pH and liver and kidney function, immunofluorescence antigen positioning, etc. In case of infection, secretion culture and drug sensitivity shall be conducted simultaneously.
In severe cases, chest X-ray, ECG and B-scan examination should be performed.
What does epidermolysis bullosa need to be distinguished from?
EB should be distinguished from various autoimmune, infectious bullous diseases as well as drug-induced bullous diseases, such as bullous pemphigoid and pemphigus.
How To Prevent Epidermolysis Bullosa
Can epidermolysis bullosa be prevented?
There is no effective prevention measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease. Prevention and treatment of infection can reduce the occurrence of complications.
How To Treat Epidermolysis Bullosa
Epidermolysis bullosa to see which department?
Dermatology, pediatrics, emergency department.
Does epidermolysis bullosa need hospitalization?
It is recommended that the cause of the disease should be investigated through hospitalization, and the type of examination and treatment scheme should be perfected. Timely hospitalization for anti-infection treatment if there is an infected person.
How to treat epidermolysis bullosa?
There is currently no effective treatment. Principle for careful nursing, protect the local, avoid trauma, friction, heating, prevent secondary infection.
- Prevention and treatment of infection:
- Epidermolysis bullosa (EB) wounds are covered with a non-adhesive silicon dressing, a foam dressing that absorbs exudate, and a non-adhesive silicone tape.
- In wounds with severe bacterial colonization, diluted bleach bathing or wet dressing, topical antimicrobials, and topical antibiotics can be used to reduce bacterial load.
- Clearly infected wounds often require systemic application of antibiotics.
- Pain management: Pain control is an important aspect of treatment in patients with epidermolysis bullosa (EB).
- For mild to moderate pain, analgesics such as paracetamol and acetaminophen may be used alone or in combination with non-steroidal anti-inflammatory drugs.
- Treatment of severe pain may require the use of opioids or anti-anxiety medications.
- Nutrition support: All patients with severe epidermolysis bullosa (EB) have impaired nutrition and need nutritional support.
- Patients with anemia require iron supplementation with or without erythropoietin.
- Patients with evidence of osteopenia or osteoporosis should be given calcium and vitamin D supplementation.
- In recent years, bone marrow transplantation has been reported abroad.
What Should Patients With Epidermolysis Bullosa Notice In Life
What should patients with epidermolysis bullosa notice on diet?
No special attention on diet, suggest regular light diet, avoid spicy, greasy and excitant food intake.
What should epidermolysis bullosa patients pay attention to in life?
- Live and rest regularly, avoid overworked, appropriate exercise and exercise. Avoid stress states such as infection.
- Eat a light and regular diet and avoid foods that are irritating or cause allergic reactions.