1. What is bullous epidermolysis?
Bullous epidermolysis is the unbearable pain for patients and families who unfortunately have children suffering from this fatal disease. Because from birth, these children carry a “death sentence.” So, what exactly is bullous epidermolysis?
1.1. Definition of bullous epidermolysis
Bullous epidermolysis, known in English as Epidermolysis Bullosa (abbreviated EB), is a rare genetic disease caused by gene defects controlling epidermal development, making the skin unable to adhere properly. This causes extremely fragile, blister-prone skin, also known as “butterfly skin” disease.
Most cases of Epidermolysis Bullosa cause pain for the infant right after birth and make it very difficult for them to live a normal life like other children. According to Dedee Murrel, an EB specialist in Australia, congenital bullous epidermolysis is a genetic disease existing in two main forms: recessive inheritance and dominant inheritance.
1.2. Causes and types of congenital bullous epidermolysis
Due to dominant or recessive gene mutations, Epidermolysis Bullosa has many types. Sometimes healthy parents carrying the gene may have a child with bullous epidermolysis with about a 25% chance.
Currently, there are up to 15 genes causing EB, and each type of the disease is caused by mutations in a different gene. Based on blister formation and the level of tissue separation, there are 4 main types of bullous epidermolysis identified:
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Simple, localized bullous epidermolysis (Epidermolysis Bullosa Simplex)
This is the most common and mildest type, usually starting at birth or childhood, sometimes not appearing until adulthood but triggered by physical activity or excessive walking.
The cause is dominant inheritance on an autosome. In mild cases, blisters usually appear only on the hands and feet. If more severe, other body parts may be affected, and the skin may change color or become spotted…
Patients with Epidermolysis Bullosa Simplex often sweat excessively on hands and feet, causing recurrence in hot seasons. However, blisters occur only in the epidermis layer and usually heal quickly without scarring.
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Junctional bullous epidermolysis (Junctional Epidermolysis Bullosa)
Not as mild as the first type, junctional bullous epidermolysis is more severe and rarer, caused by recessive inheritance on an autosome. Symptoms usually appear immediately after birth, progress severely, and may cause death within the first few months.
Patients with this type experience blistering over the entire body, possibly affecting the mucous membranes of the mouth and internal organs. For example, involvement of the intestines can cause digestive issues and nutrient absorption problems in children.
Blisters and erosions may heal but form scars (commonly milia) lasting for years. This causes the skin to become rough, raised, prone to bleeding and infection. If it occurs in the mouth or airway (bronchi, larynx), the patient may suffer breathing difficulties or even death. Survivors often face severe anemia or delayed intellectual development.
- Dystrophic epidermolysis bullosa (DEB)
Dystrophic Epidermolysis Bullosa is a dystrophic condition caused by dominant and recessive inheritance on chromosomes, occurring in about 3.3 per 1 million people. Symptoms appear in newborns with widespread blisters, sometimes with areas of missing skin during birth.
– If dominant inheritance bullous epidermolysis:
The child will have blisters on the body without any trauma, meaning blisters appear spontaneously, commonly on the extensor surfaces, joints, especially finger, toe, knee, ankle, elbow, and dorsum of fingers… causing stunted growth, fused fingers, bone atrophy, and hand contractures.
Additionally, the disease causes erosions in the mucosa of the tongue, mouth, throat, palate, and larynx, causing lip and gum contractures and scarring, leading to swallowing difficulties.
– If recessive inheritance bullous epidermolysis:
The child has localized, inverse, or widespread symptoms. In mild cases, blisters are limited to hands, feet, elbows, knees, and rarely cause complications. In severe cases, blisters are widespread on both skin and mucous membranes with lesions appearing right after birth.
A characteristic sign in 90% of children with severe recessive dystrophic EB is fingers and toes fused into a glove-like structure.
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Mixed bullous epidermolysis (Kindler syndrome)
Kindler syndrome is a very rare form of congenital bullous epidermolysis, with only about 250 cases reported worldwide.
It is a type of blistering skin disease usually occurring in newborns and infancy but may decrease over time. Symptoms include the formation of round erythematous patches on the dorsum of hands and feet. These recurrent patches cause skin to become thin, wrinkled like “paper,” often spreading to other areas.
2. Common symptoms of bullous epidermolysis
Despite the many types, most congenital bullous epidermolysis cases share the common symptom of blister formation after minor trauma on the skin and mucous membranes, sometimes appearing spontaneously without any trigger.
– Skin easily injured, bleeding, blistering even with light touch, hugging, or movement, talking…
– Blisters, oozing fluid, painful, slow healing wounds, prone to infection.
– Excessive sweating, difficulty swallowing, frequent tooth decay, difficulty growing hair due to scalp scars.
Not only external epidermal damage, but patients may have blisters inside the body such as throat, esophagus, stomach, digestive tract, urinary tract, or upper airway.
Due to constant skin damage, patients lose fluids and protein leading to severe malnutrition, infection, and many life difficulties such as nail deformities or loss; increased risk of skin cancer…
3. Can bullous epidermolysis be cured?
Currently, “butterfly skin” disease cannot be completely cured but only managed with special skin care to minimize pain for patients. However, in recent years, scientists in the US, UK, and Canada have researched, developed, and applied stem cell transplantation technology to treat patients with relatively positive results. Nevertheless, this treatment is very expensive and a heavy burden for families.
– Wound treatment: using pain relievers, anti-inflammatories, and specialized wound care products for patients with butterfly skin disease.
– Nutritional supplementation to strengthen immunity and prevent complications like constipation, malnutrition, dehydration…
– Prevention of secondary infections.
4. Is bullous epidermolysis contagious?
Congenital bullous epidermolysis is a rare genetic disease caused by gene defects in the body and is not contagious like measles or chickenpox…
You can safely care for patients with “butterfly skin” without fear of infection through contact.
5. How to care for patients with congenital bullous epidermolysis
Besides doctor-prescribed treatments, families also need to equip themselves with knowledge to properly care for EB patients, helping prevent new injuries and minimize complications.
This is certainly not easy, but caregivers should patiently learn proper care methods to reduce pain for patients. If time or knowledge is lacking, families can use wound care services at health centers/hospitals or hire professional nurses to care for wounds at home.
Proper wound care for bullous epidermolysis helps accelerate healing, reduce scarring, and prevent serious complications like infection.
Some notes for caregivers of Epidermolysis Bullosa patients include:
– Always monitor early signs of wound infection.
– Avoid rubbing that causes blistering or worsens injuries.
– Dress the child in soft, cool fabrics like satin or cotton.
– Bathe and clean the child’s wounds daily, keep the skin moist and covered…
6. Organizations supporting people with bullous epidermolysis worldwide
You can contact the following organizations for support if you or your family member unfortunately has congenital bullous epidermolysis:
- US Epidermolysis Bullosa Research Association (DEBRA USA): https://rarediseases.info.nih.gov/organizations
- Epidermolysis Bullosa Center: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa
- Epidermolysis Bullosa Medical Research Foundation (EBMRF): https://www.ebmrf.org/
- RareConnect: https://www.rareconnect.org/en/community/epidermolysis-bullosa
- DebRA International (International charity dedicated to bullous epidermolysis research, active in 40 countries): https://www.debra-international.org/
REFERENCES
(1) https://www.healthline.com/health/butterfly-skin#types
(2) https://www.debra.org/how/choose-products
(3) https://benhviennhitrunguong.gov.vn/9234.html
(4) https://vnexpress.net/nhung-em-be-mang-an-tu-tu-luc-lot-long-2274840.html
(5) https://vnexpress.net/cau-be-benh-da-canh-buom-thanh-bieu-tuong-nghi-luc-song-3238736.html
(6) https://vnexpress.net/nhung-dua-tre-can-duoc-nang-nhu-nang-trung-2276914.html
(7) https://suckhoedoisong.vn/can-phat-hien-som-benh-ly-thuong-bi-bong-nuoc-bam-sinh-169220430224656286.htm
(8) MSD and MSD Manual (Professional version)
https://www.msdmanuals.com/vi-vn/chuy%C3%AAn-gia/r%E1%BB%91i-lo%E1%BA%A1n-da-li%E1%BB%85u/b%E1%BB%87nh-da-b%E1%BB%8Dng-n%C6%B0%E1%BB%9Bc/ly-th%C6%B0%E1%BB%A3ng-b%C3%AC-b%E1%BB%8Dng-n%C6%B0%E1%BB%9Bc-m%E1%BA%AFc-ph%E1%BA%A3i#:~:text=H%E1%BB%99i%20ch%E1%BB%A9ng%20Kindler,-H%E1%BB%99i%20ch%E1%BB%A9ng%20Typeler&text=C%C3%A1c%20%C4%91%E1%BB%A3t%20l%E1%BA%B7p%20l%E1%BA%A1i%20d%E1%BA%ABn,mao%20m%E1%BA%A1ch)%20l%C3%A0%20ph%E1%BB%95%20bi%E1%BA%BFn.