Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens type (RDEB-HS)
In simplistic terms, Epidermolysis bullosa means the breakdown and blistering of the outer skin.
Epidermolysis bullosa is caused by a mutation in the collagen VII gene. Collagen assembles into cross-linked fibrils. Because their fibrils are cross linked, collagen fibers provide high tensile strength to the matrix. Because people with EB have incorrectly formed anchoring fibrils, their epidermal basement membrane does not anchor to the dermis. The slightest friction or trauma to any part of their body will cause their epidermis to come off or a blister to form where the epidermis and dermis separated.
Blistering can occur in the mouth and esophagus. The moist lining of the mouth and esophagus are covered with stratified epithelium squamous. Sometimes the esophagus constricts from the scarring. When this happens, people with EB go in for a surgery to dilate the esophagus with a balloon.
Stage 3 of tissue repair is when the fibrosed area matures and contracts regenerating a thickened epithelium and an underlying area of scar tissue.
The thickened epithelium and scar tissue makes it hard for people with EB to fully open their mouth which makes it hard for them to eat and some can’t brush their teeth. They get a lot of dental caries and many have a gastrointestinal tube to avoid malnutrition.
Scarring causes their finger and toe nails to fall out and not grow back. I believe the nail matrix, which is responsible for nail growth, must be severely scarred and constricted. The scarring also causes their fingers and toes to become webbed.
The stratum basale layer is where melanocytes reside. Melanin helps protect the skin from the sun’s ultraviolent rays. Melanocytes and keratinocytes are scattered throughout the stratum spinosom. People with dystrophic recessive epidermolysis bullosa are prone to getting squamous cell carcinoma. Squamous cell carcinoma arises in the stratum spinosum. It tends to grow rapidly and metastasize if not caught early.
People with EB seem to have the same struggle as burn victims except people with EB have chronic 2nd to 3rd degree burn-like wounds on many parts of their body. People with EB lose a lot of fluid from blisters that must be popped, drained, and covered to avoid infection. The catastrophic loss of body fluids can cause dehydration and electrolyte imbalance and then renal failure because the body fluids contain proteins and electrolytes. People with EB can also suffer from anemia from chronic blood loss from the blisters and skin lesions
People with EB have problems keeping cool during hot summers. The secretory part of the eccrine sweat glands are coiled up in the reticular part of the dermis and extend in a funnel-shaped pore at the surface of the skin. I believe the constricting scar tissue prevents people with EB from sweating efficiently. I believe there is a lot of insensible sweating or sweating that goes unnoticed. Because they are usually covered in 3 layers of bandages from the neck down, the sweat cannot evaporate and dissipate body heat.
The chemical barriers of skin include the skin secretions and melanin. Skins cells secrete natural antibiotics called defensins that punch holes in the bacteria and the low pH of acid mantle retards the bacteria from multiplying. Wounded skin releases large quantities of protective peptides called cathelicidin that are particularly effective in preventing infection by group A streptococcus bacteria. Melanin provides a chemical pigment shield to prevent UV damage to the skin cells.
The most common organisms found on people with EB are Streptococcus species, Diptheroid, Pseudomonas aeruginos, and Candida albicans. Colonization of bacteria can delay wounds from healing. People with EB must go through the painful process of bathing in diluted bleach or vinegar 2 to 4 times a week for 5 to 15 minutes in order to lower the amount of bacteria on the skin.
The dermis has a rich supply of nerves, blood vessels and lymphatic vessels. Because the dermis has a rich supply of nerves, EB is an extremely painful disease. They can feel hot or cold thanks to the corpuscle of Ruffin and bulb of Krause respectively. The free nerve endings go hay wire during bleach baths causing the person with EB to be in even more indescribable pain. There is also a lot of blood and lymph loss.
Everything I have discussed is about dystrophic epidermolysis bullosa but every type of EB is painful and many types are debilitating. EB doesn’t just affect the person suffering from it but it also affects the people around them. It hurts a parent to see their child in pain. It’s even worse when that parent is causing more pain in order to prevent infection. Currently, there is no cure for EB. There is only wound care and pain management.
I would like to do research on genetic and autoimmune disease to lessen the pain and suffering for people with horrible diseases, especially for people with EB.
Textbook: Human Anatomy & Physiology 10th edition
The eyes can also be effected. It is immensely important to keep their eyes moist. At night they put eye ointment in their eyes, so they can open their eyes with no problem. The problem is that when they open their eyes, they could get a corneal abrasion and then have to be in a dark room with the affected eye corvered for a few days. The cornea abrasion happened because the conjunctiva, the mucosa layer of the eye ball and the inner eyelid, stuck onto to their cornea.
Collagen: mutation in Collagen IIV
Blisters of feet (feet have stratum lucidum)
Blisters: must constantly be popped to avoid infection,
Blisters for to protect the skin from friction; the smallest amount of friction will take the skin off or form a blister
Fluid loss: dehydration, insensible prespiration
Skin cancer risk: melanoma; don’t have stratum basale which is where melanocytes reside
Esophagus: stratified squamous epithelium; stricture
Skin is like 2nd– 3rd degree burned; some wounds are chronic, like a chronic 3rd degree burn?
Mouth gets blisters too; some can’t brush their teeth; mouth is mucus membrane.
Body temperature: cannot regulate body temperature; covered in bandages
Scarring: lots of scarring; webbed fingers and toes, lose finger and toe nails;