What Is Epidermolysis Bullosa?
Epidermolysis bullosa (EB) refers to a group of inherited disorders that are distinguished by blistering lesions involving the skin as well as mucous membranes. The diseases can be passed on from parent to child. These can appear everywhere on the body but more frequently in places with much friction and little damage, like the hands and feet. Blistering can also happen on internal organs such as the esophagus, stomach, and respiratory tract in certain subtypes of the condition, even when there is no obvious evidence of friction.
What Are the Signs and Symptoms?
The signs and symptoms of EB vary depending on the type, and they typically become apparent when a person is an infant or a toddler. There is some overlap between the different sorts of symptoms. The following are some symptoms of EB:
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Blisters either on the skin (hands, feet, elbows, and knees) or within the body.
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A thickening of the calluses is seen on the palms of the hands and the soles of the feet.
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A decreased number of red blood cells characterizes anemia.
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Fingers or toes that are fused (or connected) together.
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Fingernails and toenails that have become distorted and thickened.
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Milia are described as having a white bumpy appearance on the skin called dysphagia.
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The slow growth of the child.
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Teeth that do not develop to the size that would be expected (hypoplasia).
What Are the Types?
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Epidermolysis Bullosa Simplex (EBS) - This is the most prevalent form of epidermolysis bullosa simplex (EBS). In their mildest style, the blisters are typically limited to the palms and feet of newborns. The skin may cease to fracture in adolescence or adulthood, leaving the palms and soles of adolescents and adults with thickened, hardened skin. EBS may also be a severe condition. Blistering can be widespread and can appear anywhere on the epidermis or in the mouth. The nails may be rough, heavy, or absent. When this occurs, the blistering appears to be more severe at birth but continues to diminish with age. As the blisters subside, the epidermis usually heals without scarring.
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Dystrophic Epidermolysis Bullosa (DEB) - When an infant has a mild dystrophic epidermolysis bullosa (DEB), only the hands, feet, knees, and elbows tend to develop blisters. Also, blistering can be pervasive, resulting in severe DEB. A newborn with severe DEB may have extensive blistering along with areas of absent skin. Swallowing may be unpleasant if blisters develop within the mouth and esophagus. When this occurs, a feeding tube may be necessary for the child. Precautions can be taken to prevent the child's digits or toes from joining together if they frequently blister and scar. Individuals with DEB may also develop fatal cutaneous cancers. This is because skin cancer has become much more aggressive, making successful treatment problematic. Scars typically form as the blisters recover. If the skin on the fingertips or toes frequently blisters and scars, the fingers or toes may become fused. This child's fused digits are a result of repeated blistering and scarring. Walking becomes problematic when the toes connect.
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JEB: While Junctional Epidermolysis Bullosa (JEB) is mild, neonates typically only develop lesions on their hands, elbows, knees, and feet. Two or three months after birth, the blistering typically subsides. In severe cases of JEB, blisters may develop in extensive areas of the human body or digestive tract. Scars form as blisters recover. This may lead the toes or fingers to fuse, but precautions may decrease the likelihood of this occurring. Infections, hair loss, and respiratory difficulties are also possible. When extremely severe, JEB is frequently fatal within the first period of life.
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Kindler Syndrome- It is a very unique form of EB. At birth, the skin is exceedingly sensitive to the sun and blisters easily. The child's blistering and solar sensitivity will diminish as he or she matures. As these decrease, a skin condition known as poikiloderma manifests. As a result, the epidermis begins to resemble the skin depicted in this image. The dark patches initially appear only on sun-exposed skin. After puberty, dark spots appear on all areas of the epidermis. Additionally, at this stage, blood vessels may become visible, and the layer of skin on the body's extremities tends to become significantly thinner. Additionally, the skin becomes so desiccated and wrinkled that the hands and feet resemble those of a senior citizen.
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Epidermolysis Bullosa Acquisita (EBA) -This extremely uncommon form of epidermolysis bullosa (EB) is distinct from the other forms. It is believed that this form of EB is an autoimmune condition. When a person develops an autoimmune disease, his or her immune system mistakes a part of the body for a foreign invader and assaults it. When an individual has EBA, their body attacks the collagen found in the epidermis and throughout the rest of the body. This attack causes a burning sensation. EBA typically manifests in a person's 30s or 40s, as opposed to the other forms of EB, which manifest at birth or shortly after that. Hands, knees, elbows, and ankles are prone to developing blisters. Blisters may be additionally widespread and appear in the mouth, nostrils, and eyes. As the blisters resolve, white bumps known as milia may emerge. Scarring can sometimes occur. Typically, blisters within the body result in extensive disfigurement.
What Are the Causes?
EB is caused by a mutation in one of eighteen genes. An absent or damaged gene affects a collagen-producing protein in individuals with this disorder. Strength and structure are provided by collagen to connective tissues, such as the epidermis. The outer and inner layers of the skin do not adhere to one another as they typically would due to this condition. This causes a fragile epidermis, as it easily blisters and tears. EB is typically a genetic condition, meaning a parent can pass it on to their offspring. Rarely, EB may also be an acquired autoimmune condition.
What Are the Diagnostic Methods?
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Immunofluorescence Mapping via Biopsy: A small sample of the affected epidermis or mucous membrane is extracted and analyzed under a specialized microscope. It employs reflected light to determine which epidermis layers are present. This test also determines whether the necessary proteins for epidermis growth exist and are in good health.
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Genetics Tests: A physician collects a small blood sample and transmits it to a laboratory for DNA analysis as part of this test.
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Prenatal Testing: Prenatal testing and genetic counseling may benefit families with a history of epidermolysis bullosa.
What Are the Treatment Methods?
Lifestyle adjustments and home care may be the first treatment for epidermolysis bullosa. If these do not relieve symptoms, the following can be done:
Medications: Medication can relieve pain and itching. The practitioner may prescribe oral antibiotics to fight infection if symptoms include fever and weakness.
Surgery: Surgical intervention may be necessary. Options occasionally employed to treat this condition include:
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Esophageal Dilation: The esophagus, a long, hollow tube extending from the throat to the stomach, can become constricted due to blistering and scarring. Having food will take a lot of work. Surgery can make food intake easier by widening the tube.
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Feeding Tube Placement: A gastrostomy tube can administer food straight to the stomach to boost nutrition and weight gain.
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Skin Grafting: The surgeon may recommend a skin graft if scarring has impaired hand function.
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Restoring Motion: Repeated blistering and scarring might fuse fingers or toes or induce contractures. If they limit movement, a surgeon may propose surgery.
Conclusion
EB is a systemic illness that necessitates the involvement of multiple professions. Chronic inflammation, fibrosis, and the microbiota all have a role in SCCS (squamous cell carcinoma) in the most severe forms of EB, and several potential new treatments are on the horizon. Even though EB is uncommon, significant efforts have been made to establish a registry to find potential patients for essential therapeutic studies. Thanks to newly discovered and improved molecular technologies, Microsurgery can now fix disease-causing mutations in impacted genes. Gene editing technology has promising long-term, safe, tolerable, and effective treatments for inherited diseases. Early gene treatment can avoid symptoms and progression of the illness, including life-threatening cutaneous SCC and catastrophic chronic EB lesions.
