About RDEB-HS

What is EB?

Epidermolysis Bullosa (EB) is a rare genetic skin disease that causes the skin to be so fragile that the slightest friction can cause severe blistering—inside and outside the body. Today there is no cure. Severe forms of EB cause patients to live with constant pain and scarring. The worst forms of EB lead to eventual disfigurement, disability and often early death.There are many patients who are diagnosed with milder forms, which, while they can be extremely difficult to live with, are non-disfiguring and non-lethal.

The only treatment for EB is daily wound care and bandaging. The daily routine is a grueling, multi-faceted daily regimen. Caregivers, often parents or family members of EB children, must work in tandem with medical professionals to determine and administer different treatment methods to care for EB wounds.

With skin as fragile as a butterfly wing, EB patients are dubbed “Butterfly Children”. On the outside physical wounds prevent them from normal daily activities enjoyed by other children. On the inside, their dreams are the same as any child who loves, plays, learns and grows despite the pain and impediment caused by their disease. With the programs and services of Debra of America, EB’s Butterfly Children and their families find the support they so desperately need. Debra of America works to ensure that a life of struggle is also a life of hope for the 1 out of every 50,000 live births in the United States affected by EB.

There are three different major types of EB. Simplex, Dystrophic, and Junctional. There are also subtypes of each type. Gunner has RECESSIVE Dystrophic. This means that Cody and I both are carriers of the gene linked to collagen 7. There is also a form called Dominant Dystrophic EB. This type is inherited if one of the parents have the condition themselves.

HOW IS RDEB INHERITED?

RDEB is an autosomal recessive inherited condition. This means both parents are carriers, yet they are unaffected. When each parent has a copy of the altered gene, there is a 1 in 4 chance or 25% that the child will be affected. Unfortunately, there is no test to detect carriers for RDEB. We are made aware that the parents are carriers after their child is born.

Electron microscopic evaluation reveals skin separation at the level of the sub lamina densa, with absence of anchoring fibrils in RDEB-HS.

There are reduced or occasionally abnormal appearing anchoring fibrils in RDEB-nHS.

Mutations in RDEB are found in both the motherÂ’s and the fatherÂ’s gene encoding collagen VII.

Basically, this means that Gunner has no collagen 7. Collagen 7 is the "anchor" of the epidermis to the dermis. (The top layer of skin to the bottom layer of skin.) At the Colorado EB Clinic, the geneticist we spoke with explained it well. He explained it as the epidermis being the grass, the collagen 7 the roots, and the dermis the dirt. In Gunner's case he has no grass roots to keep the grass in the dirt.

ABOUT RDEB

Although in some cases this form of EB can be mild with generalized blistering, typically the recessive forms of EB tend to be more severe. Onset is usually at birth with areas of missing skin. Generalized blistering then scarring can occur on skin surfaces and mucous membranes. Scarring may limit range of motion of extremities. Fusion of fingers and toes and contractures cause deformity and loss of function.

In some cases there is relatively mild blistering on hands, feet, elbows, and knees; these cases are very similar to dominant dystrophic EB. However, recessive dystrophic epidermolysis Bullosa typically is characterized as follows:

Blistering onset is at birth or soon afterwards. In some cases, nearly all skin surfaces and mucous membranes (from mouth to anus) are covered by blisters. Large areas may be devoid of skin. There is widespread scarring and deformity. Fingers and toes may become immobile. With recurrent scarring, fingers and/or toes may fuse together. Hands and arms may become fixed in a flexed position with resulting contractures. There is usually loss of the nails of the fingers and toes. Teeth may be malformed and delayed in appearing through the gums. Because routine dental care can raise blisters, many persons with RDEB have a higher than normal incidence of cavities. Blistering on the mucosal surfaces often cause scarring within the mouth and gastrointestinal tract. The ingestion of food may be limited due to microstomia (inability to fully open mouth due to scarring and contractures of the perioral region), painful swallowing, difficulty chewing, (due to poor dentition) esophageal webbing. In many cases chronic malnutrition, growth retardation and anemia may ensue. Involvement of the eyes can include eyelid inflammation with adhesions to the eyeball, as well as inflammation of the cornea or the conjunctiva (the mucous membrane covering the eyeball and the underside of the lids).

COMMON SYMPTOMS WITH RDEB

Since EB varies in severity these manifestations may or may not be experienced by the individual affected.

• Generalized blistering.
• Absent or dystrophic nail - Presence of a rough, thick or changed finger or toenail.
• Milia - tiny skin cysts.
• Atrophic scarring - Depressions in skin as a result of thinning in
  epidermis or or dermis.
• Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. It is more common in the severely infected individual (RDEB Hallopeau Siemens). In some instances anemia may occur in (DDEB, RDEB non-Hallopeau-Siemens and RDEB inversa).
• Growth retardation is more common in a severely affected individual (RDEB Hallopeau Siemens). In some instances this may occur in (DDEB, RDEB non-Hallopeau-Siemens and RDEB inversa).
• Problems with the soft tissue inside the mouth.
• Ocular (eye) involvement is more common in severely affected individuals (RDEB-HS). In some instances this may occur in (RDEB non-HS
  and RDEB inversa).
• Dental caries - Presence of cavities. This is more common in (RDEB-HS and RDEB inversa).
• Gastrointestinal tract: Involvement of the GI tract may include blisters in the mouth, esophagus and/or anal margins. (Problems may exist in those with DDEB however it is more commonly seen in RDEB.)
• Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more common in the severely affected individual (RDEB HS, RDEB non-HS
  and RDEB inversa).

RARE BUT POSSIBLE SYMPTOMS OF RDEB

Granulation tissue - Capillary formation during tissue healing. Would be a rare occurrence in a person affected with either form of DEB. (This manifestation may be seen in a person severely affected with Junctional EB.)

Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.

Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.

Genitourinary tract involvement.

SKIN CANCER AND RDEB

It is important to note that skin cancers usually react differently in a patient with EB. The more severely affected individual (RDEB) appears to be more at risk for developing squamous cell carcinoma. These localized skin cell tumors have the ability to grow faster and spread to other areas of the body more rapidly then they would on a less compromised individual. Patients and caregivers need to examine skin carefully for any changes. It is important to perform self examinations of your skin at home. Many times it is helpful to have family members look at areas that are not often viewed by the affected individual, such as the back or upon the scalp. Mirrors can be helpful in detecting growths on the back of trunk and extremities when you are self examining.

Any suspicious lesions, moles or markings should be evaluated by a dermatologist. Yearly full body exams are usually recommended, however, in some instances your dermatologist may modify the frequency of skin exams.

• Squamous Cell Carcinoma and Recessive Dystrophic EB: The incidence of squamous cell carcinoma is more common in the severely affected individual, RDEB Hallopeau-Siemens. There have also been reports of Squamous Cell Carcinoma in patients with RDEB non Hallopeau- Siemens.
• Squamous Cell Carcinoma and Dominant Dystrophic Epidermolysis Bullosa: It is a rare occurrence for the person affected with DDEB to develop squamous cell carcinoma.
• Melanoma and Dystrophic EB: Rare occurrences of melanoma have been reported in Dominant Dystrophic EB and Recessive Dystrophic EB.
• Basal Cell Carcinoma and Dystrophic EB: Rare, but has been reported in a small percentage of individuals with Dominant Dystrophic EB.

Gunner's Subtype Hallopeau-Siemens:

The Hallopeau-Siemens (RDEB-HS) form of EB is the most severe, since it causes major disability. It manifests initially with a general eruption of blisters, however these are predominantly localised on the extremities of the limbs. It includes dental complications and mucous lesions including oral, anal and esophageal stenosis which can cause malnutrition and retard growth. Scarring of the cutaneous lesions is slow and abnormal and is accompanied by milia, terminating in the characteristic atrophic lesions that cause disability (syndactylies, contraction when flexing the limbs). During childhood, repeated blistering and long periods of pathological scarring result in a significant handicap: it becomes more and more difficult to walk and perform everyday movements. Anal erosion makes defecation painful. Death often occurs during the first three decades of life as a result of infectious complications, malnutrition with anemia, retarded growth and even secondary amyloidosis. Spinocellular carcinoma often appears on the most affected areas of skin and mucous membrane.

Gunner currently has fusion on both feet in between the big toes and second toes. He has no fusion of the hands. His mouth is almost constantly broke out with lesions and blisters, and in the past two weeks he has started forming esophagus blisters and one blister on the white of his eye. Gunner's feet and hands are the worst areas affected.  He has no nails at all on his hands and two nails on each foot. But the nails will grow and then fall right back off again, it is a never ending cycle. But his EB is generalized, meaning he can blister all over the body. Again, any questions that may not have been answered you can email me at enance17@gmail.com

ALL information, except my little inserts, come directly from www.debra.org and http://epidermolysis-bullosa.com/Understand-the-pathology/Dystrophic-EB-DEB.