Epidermolysis bullosa dystrophica also known as dystrophic EB (DEB) refers to a hereditary disease that affects the skin and other body organs. A child born with this condition is colloquially referred to as “butterfly child” because the child’s skin is considered as fragile and delicate as that that of the insect.
This condition normally manifests during infancy or early childhood. In some people, signs and symptoms of this disease do not develop until they are in adolescence or early adulthood years.
There are many health facilities in the use that provide treatments for recessive epidermolysis bullosa dystrophica in the United States. However, patients need to travel from their residences to the facilities. Insurance plans cater for medical treatments but not travel expenses. This means you need to plan wisely so that travel expenses are put at the minimum.
If you already know the healthcare facility from which you want to seek medical attention for recessive dystrophic epidermolysis bullosa, you can go ahead and plan for your travel. Otherwise, you can check a list of health facilities in the country that provide care for the disease. In case you are not able to meet your travel expenses, you can check our directory of charitable organizations that help in arranging free travel for medical purposes.
About Recessive Dystrophic Epidermolysis Bullosa
This condition does not have a cure. However, mild forms may get better with age. Treatment options for this disease involve looking after the blisters and preventing others from appearing.
Signs and symptoms
Epidermolysis bullosa signs and symptoms may be different depending on condition type. They include the following:
- Thick or non-forming nails
- Fragile skin that blisters easily, especially on the hands and feet
- Thickened skin on the palms and soles of the feet
- Blisters inside the mouth and throat
- Scalp blistering, scarring and hair loss (scarring alopecia)
- Tiny white skin bumps or pimples (milia)
- Thin-appearing skin (atrophic scarring)
- Dental problems, such as tooth decay from poorly formed enamel
- Itchy, painful skin
- Difficulty swallowing (dysphagia)
These blisters as a result of the condition may not manifest till the child starts walking or till an older kid starts new physical activities that cause more powerful friction on the feet.
As an inherited disease, epidermolysis bullosa may be passed on from a single parent with the condition or what is called autosomal dominant inheritance. The gene may also be inherited from both parents and what is referred to as autosomal recessive inheritance. The condition may also arise independently as a new mutation that is passed on.
The type of epidermolysis bullosa affecting a person is determined by where the blisters form on the skin; the outer layer (epidermis), the underlying layer (dermis) or the area between the two layers (basement membrane). These types include the following;
- Epidermolysis bullosa simplex. Affects the outer layer.
- Junctional epidermolysis bullosa. The most severe type and develops in infancy. It causes hoarse sound in the child cries because of the scarring that affects the vocal cords.
- Dystrophic epidermolysis bullosa. This is related to a fault in the gene that is responsible for production of collagen. Without this, the skin does not join normally.
Where to Go for Recessive Dy-strophic Epidermolysis Bullosa
There are many healthcare centers in the United States where you can take your child for recessive dystrophic Epidermolysis Bullosa treatments. These health facilities have the equipments, the staff and medications needed to provide the best healthcare treatments and therapies possible. One of the best hospitals where patients can get specialized treatment and management of this disease include;
- Lucile Packard Children’s Hospital Stanford
The Epidermolysis Bullosa Clinic in this hospital is composed of a team of doctors and expert healthcare providers specialized in this rare genetic skin disorder. The team understands that the disease requires ongoing, focused treatment. The professionals here educate the parent and the child about the disease, offer support and guidance, and work together with the parents to develop an all-inclusive plan for the care and management of the child’s circumstance.
Treatment of Recessive Dy-strophic Epidermolysis Bullosa
Epidermolysis bullosa does not have a cure. However, mild types of the condition may get better with age. The treatment options for this condition include looking after the blisters and preventing new ones from forming. These preventative measures may include the following;
- Handling the child gently and carefully. When picking the child, place him a soft material and support under the butts and behind the neck.
- Be careful on the diaper parts. Always avoid cleansing wipes.
- Keep the child environment cool
- Keep the child skin moist
- Use soft clothes on the child
- Avoid and prevent scratching
- Support the child to be active
Depending on the type of the condition, this disease can be treated and managed by use of bone marrow transplantation. The treatment procedure also involves dressing the wounds and preventing new ones from forming.
Risks Associated with Recessive Dy-strophic Epidermolysis Bullosa
There are many risks that are associated with this condition. Among the most severe of these include the following;
- Skin infections
- Fusion of fingers and changes in joints
- Nutritional problems
- Skin cancer
Who Can Go for Recessive Dy-strophic Epidermolysis Bullosa Treatment
You need to go for treatment if your child is experiencing signs and symptoms of the diseases. If your child develops blisters that have no explainable reasons, you should go for epidermolysis bullosa treatment because severe blisters can be life-threatening for young ones. If you notice the following in your child, you need to see a doctor;
- Swallowing difficulties
- Breathing problems
- Signs of infection like swollen painful skin, pus, foul smelling sores, fever or chills