Describe Different Types Of EB

There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

The EB-5 program is booming in popularity, driven largely by the U.S. economy in which developers are searching for new sources of capital. It is also fueled by rising demand from foreigners looking for access to U.S. schools, safe investment in U.S. projects and -- in the case of China, where most of the investors are from -- greater freedom.

There are two pathological types of Castleman's Disease , the hyaline vascular variant can occur in a localized (unicentric) and plasma cell variant that occurs in widespread (multicentric) form.

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

Eclabium (lips turning outward), ectropion (eyelids turning outward), hyperkeratosis and disrupted barrier permeability cause the majority of health issues encountered by those with HI. These symptoms, along with the lack of lipids, lead to a lack of lubrication for the skin once a child is born. In the womb, the child is kept nourished by the amniotic fluid, but postnatal exposure to air causes rapid dehydration of the neonate’s skin, which causes the skin to shrink and tighten severely, the skin can even constrict enough around the thorax that breathing may be impeded, leading to suffocation and death. The skin may also constrict so much so, that it cracks, this is where the rest of the health problems associated with HI arise from. When the skin begins to crack, it cracks deep leaving fissures in the surface of the skin that may bleed if they are deep enough. The fissures leave the newborn susceptible to their environment by providing microorganisms an entrance to the body, which may cause bacterial septicemia. At the same time, these fissures cause the child’s body temperature to drop from losing heat to the environment, and since they are open wounds, leaking of

The exact, underlying mechanisms that lead to the symptoms of SJS are not completely understood. It is unknown how individual drugs specifically cause the symptoms of the disorder. Researchers believe that the immune system intervenes in the process of breaking down the drug to which the body is reacting. The improper immune response against the drug results in damage to healthy cells of the body. Keratinocytes, which are the precursor cells that develop into skin cells, are affected in these disorders and are destroyed during the disease process.

When a son is born to his mother, with a dystrophin mutation on one of her two X chromosomes has a chance of inheriting the flawed gene, and also having DMD. As for the daughters,

Duchenne Muscular Dystrophy, referred to as DMD, is the most severe form of all muscular dysrophies. It is rapidly progressive and occurs primary in boys. DMD is caused by a recessive mutation in the X chromosome. It can be inherited by either parent however, it can also be present with no family members having the mutation. DMD is caused by a lack of dystrophin. Dystrophin is a protein found in muscles that enables the muscle tissues to repair themselves.

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

It is caused by a defective gene for dystrophin, which is a protein in muscles. Often, people with unknown family history of the condition find that they have MD symptoms. Boys are affected by the disease not girls. Sons of female carriers have a 50-50 chance of the disease whereas daughters have a 50-50 chance of being carriers. One out of every 3,600 male infants have Pseudohypertrophic MD. Because of it being an inherited disease, the risks included are a family history of Duchenne

Bullous pemphigoid is a skin disease that causes blisters to form on the skin. The disease ranges in severity and can last for a long time. It can also come back months or years after it goes away.

The Minnesota toddler’s parents were shocked to find that their daughter would suffer from blisters every time they gave her a bath. The same symptoms arose when she cried or started sweating.