Definition

Epidermolysis bullosa is a group of rare diseases that result in the skin being highly susceptible to injury. This means that the skin can be easily injured due to elevated temperatures, friction with the skin, or plaster application. The majority of cases are hereditary in nature. Typically, this disease manifests during the early stages of infancy or childhood. Nevertheless, there exists a subset of individuals whose symptoms only manifest during adolescence or young adulthood.

Causes

Epidermolysis bullosa is typically an inherited condition. The gene responsible for this disease can be inherited through autosomal dominant inheritance, passed down from one parent to their child. Meanwhile, autosomal recessive inheritance can also occur when both parents possess the gene carrying the disease but the child does not necessarily exhibit symptoms. Genetic mutations or changes in the genetic structure, which can arise due to diverse circumstances, can also contribute to the inheritance of this disease. Alterations in the genetic structure can give rise to complications in specific body areas, such as the skin.

Skin consists of several layers, including an outermost layer (epidermis) and an innermost layer (dermis). The basal membrane refers to the location where these two layers intersect. Doctors often classify epidermolysis bullosa based on the layers where blisters develop.

There are several types of epidermolysis bullosa:

• Epidermolysis bullosa simplex

This particular type is the most frequently observed. Typically observed on the hands and feet, skin lesions usually involve the epidermis. In general, these wounds resolve without the formation of scars.

• Junctional epidermolysis bullosa

The symptoms of this type start in infancy and can be quite severe. Infants afflicted with this disorder may exhibit a raspy crying voice due to persistent damage to the vocal cords, which results in visible scarring.

• Dystrophic epidermolysis bullosa

This condition arises from genetic abnormalities in the genes that produce collagen, which enhances the structural integrity of the dermis. Insufficient or absent collagen production hinders the correct integration of the epidermis and dermis.

Risk factor

Due to familial history, the occurrence of epidermolysis bullosa in parents, grandparents, or siblings is considered a risk factor for this condition.

Symptoms

A variety of symptoms may be associated with different types of epidermolysis bullosa. Regardless of the onset, you may observe blisters prone to breaking, resulting in wounds.

Epidermolysis bullosa is characterized by fragile skin. Occasionally, patients observe that even mild contact or abrupt changes in temperature can induce painful blisters within minutes. The fragile nature of the skin can impede wound healing and contribute to delayed healing. Recovery of certain wounds can span several months or even years. Severe injuries may be irreversible.

Injuries may manifest in various anatomical structures, including but not limited to the intestinal tract, urinary tract, tissue surrounding the inside of the mouth, eyes, esophagus, and other parts of the body. The severity of these injuries can vary from minor to potentially fatal.

This condition is also distinguished by the presence of pain and easily rupturing blisters. Individuals with severe epidermolysis bullosa experience the pain more intensely. Pain can arise from either a wound or raw skin. Infections, bathing, bandage changes, and dry skin can cause pain.

Blisters and sores developing in the tissues lining the inside surfaces of the mouth, eyes, and other body regions often cause intense pain.

Diagnosis

Since the signs of epidermolysis bullosa are typically noticeable starting in infancy, the condition is typically diagnosed in newborns or children. Certain milder forms of epidermolysis bullosa may remain undetected until later in life. A doctor may recommend a patient to a dermatologist if they have any suspicions about this condition. A dermatologist can recommend more diagnostic tests to identify the type of epidermolysis bullosa and create a treatment plan. A biopsy, a procedure that requires a sample of your skin tissue, which would be examined under a microscope, could be recommended to identify the type of this disease.

In certain other instances, it is possible to detect the presence of this disease in a developing fetus. The detection process may start as early as the 11th week of gestation. Testing can be conducted by collecting amniotic fluid (amniocentesis) or taking a small tissue sample from the placenta (chorionic villus sample test). Nevertheless, these examinations are typically conducted in cases where either you or your spouse possess the genetic predisposition for this condition and are susceptible to delivering a child with severe epidermolysis bullosa. The doctor might offer guidance and counseling if the test yields positive results.\

Management

Due to its hereditary nature, epidermolysis bullosa is an incurable illness. Various healthcare professionals, including pediatricians, dermatologists, pediatric dermatologists, nurses, dietitians, psychologists, and psychiatrists, possess the necessary expertise to treat this particular condition. They could assist individuals in addressing a range of issues arising from epidermolysis bullosa.

The standard course of treatment for individuals afflicted with epidermolysis bullosa typically consists of:

• Wound treatment

The duration of wound treatment could go up to a minimum of one hour each day. The majority of patients are required to wear a bandage that has to be replaced daily or periodically. If the symptoms are quite severe, the individual may require the assistance of a nurse to care for the wound.

• Treating pain

Epidermolysis bullosa can induce severe pain resulting from a range of factors, including wounds, dry skin, infections, swallowing, eating, bowel movements, peeing, or even just moving around. Pain management frequently necessitates the use of medications. The aforementioned medications encompass antidepressants, regularly used for the treatment of epilepsy and paracetamol. In cases of severe pain, medical practitioners may opt to prescribe medicines such as fentanyl, morphine, or ketamine.

• Injuries prevention

Bandages with pads and loose attire may be used to prevent injuries. A dermatologist might provide additional guidance on injury prevention.

• Management of complications

Treatment will address any complications that may arise from skin lesions and scars.

Complications

Possible complications associated with epidermolysis bullosa may consist of:

• Infection. Infection can more easily affect injured skin.
• Sepsis. When bacteria that cause severe infections infiltrate the bloodstream and spread throughout the body, sepsis ensues. Sepsis typically manifests rapidly and poses a significant risk to life, leading to shock (insufficient oxygen supply to different organs) and organ dysfunction.
• Changes in fingers and joints. Severe epidermolysis bullosa can result in the fingers fusing together or abnormal joint bending (contracture), which can potentially limit mobility of the fingers, elbows, and knees.
• Nutritional issues. Oral sores may hinder eating, leading to inadequate nutrition, anemia (insufficient red blood cells, such as iron deficiency), delayed wound healing, and growth issues.
• Constipation. Anal or buttock injuries are another reason why a person may have trouble defecating. Insufficient intake of fluids or fiber-rich meals, such as fruits and vegetables, might also contribute to this condition.
• Dental issues. Epidermolysis bullosa can lead to dental issues, including tooth decay.
• Skin malignancy. Squamous cell carcinoma is a highly probable form of skin cancer that could impact adolescents and adults.
• Death. Infants afflicted with severe epidermolysis bullosa exhibit an elevated susceptibility to infection and fluid depletion due to injuries to multiple body regions, along with issues in eating and respiration. Babies affected by this particular kind of epidermolysis bullosa typically experience premature deaths.

Prevention

Epidermolysis bullosa is an inherited condition that currently cannot be prevented. Nonetheless, there are several precautions against wounds and infections:

• Handle your child with care when you hug them. Your child requires a gentle embrace. You can carry your kid using a soft cloth (such as cotton) and supporting him at the back of the neck and buttocks. Experts strongly advise against lifting your child from beneath the arms.
• If your child is using diapers, focus on the area. Remove the rubber from the diapers and refrain from using liquids to clean the area. Additionally, you can cover the diaper with a non-adhesive pad.
• Maintain a cool and steady temperature within the household.
• To preserve skin hydration, you can use petroleum gel.
• Dress your child in comfortable clothing. It is effortless to disrobe your child in comfortable clothing. Furthermore, you can remove the label and don the shirt with the seam facing outward, thereby decreasing the risk of injury. Additionally, you can attach pads to elbows, knees, and other areas of the body that frequently receive pressure.
• Get your children to stay active. You can encourage your child to engage in activities with minimal risk of causing scars, such as swimming. You can protect your child
• diagnosed with mild epidermolysis bullosa by dressing them in long-sleeved garments for outdoor activities.
• Cover rough surfaces of objects. For example, you can achieve this by covering the car seat with a soft cloth or the bathtub with a thick towel.

When to see a doctor?

Consider seeking medical attention immediately if your child frequently gets unexplained injuries. Severe injuries can have life-threatening consequences for babies. It is recommended that you promptly transport your child to the emergency room if they experience difficulty breathing or swallowing or infection-related symptoms, including fever, tender, red skin, pain, swelling, or an unpleasant odor emanating from the wound.

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