Stevens-Johnson Syndrome

Mucopolysaccharidosis type 2 also known as Hunters Syndrome. This condition affects many different parts of the body and occurs in males. It occurs only in the males because this condition is inherited in an X linked recessive pattern. Males have one X chromosome and females have two. So it affects males. The exception is MPS 2 in which the mother alone passes along the defective gene to a son.

There are many different types of syndromes and disease in the world today. Steven Johnson is one of them. This Syndrome is a very rare disorder in the world today. Many persons do not have a clue in which what this serious is or/and why it occurs. The Steven Johnson syndrome is a disorder of someone’s skin or mucous infection. This occurs when the persons take medication(s) that they are possibly is allergic to. It’s really not the medication but it’s like the medication is fighting off some good cells in the body. Steven Johnson Syndrome is a very serious syndrome or infection. It requires hospitalization and serious care.

Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.

Stevens-Johnson syndrome has been associated with various bacterial, viral, mycotic, and protozoal infections. Vaccines, collagen diseases, and many drugs have also been implicated

Danielle gave her son, Finley, a liquid dose of ibbuprofen. A few days later, she had to rush her son to the hospital. Finley struggled to breathe and developed a high fever. He also had blisters across his body. Danielle stated that she had no idea what was happening to her son. Finley's condition began to deteriorate in the hospital. His skin started to turn black and his organs started failing.

In 1964 Dr. Robert Douglas Sweet introduce the Sweet syndrome or Acute Febrile Neutrophilic Dermatosis in the medical literature. The disorder is classified as a neutrophilic dermatosis, which is a general term for a group of skin disorders characterized by the accumulation of neutrophils in the skin. Neutrophils are a type of white blood cell that is important in fighting off infection by destroying bacteria that enter the body. In Sweet syndrome neutrophils accumulate in the dermis, the thick layer of tissue just below the outer layer of the skin .

Most people with Smith-Magenis syndrome (SMS) have a deletion of genetic material from a specific region of chromosome 17.The deletion is not usually inherited, occurring randomly during the formation of egg or sperm cells in a parent, or in early embryonic development. In rare cases, the deletion may occur due to a parent having a chromosomal balanced translocation. Although the deleted region contains multiple genes, researchers believe that the loss of the RAI1 gene is responsible for most of the features of SMS. The loss of other genes in the deleted region may explain why the features may vary from person to person. (Rare Diseases) Most

What is a genetic disorder? Scientifically speaking it is defined as a permanent alteration in the DNA sequence that makes up a gene. This alteration could be as small as the addition or deletion of a single base pair or large enough to cover multiple genes.

Jacobsen syndrome was discovered by Dr. Petra Jacobsen in 1973, as he describes a family with multiple members who had an unbalanced 11;21 chromosome, which had originated from a balanced translocation carrier parent. There are some patients with large deletions that can exhibit severe clinical manifestations and impairments, however, a few phenotypes reveal incomplete penetrance can differ greatly between several patients.

Dress syndrome was diagnosed because after Trimebutin maleate use was seen fever, skin rash, high transaminase values and eosinophilia detected in the peripheral blood smear.

Genetics is the study of genes and how we as human beings express ourselves through different behaviors. Who we are and how we behave is a result of our genetic makeup. Every individual is different in their own way. No one is the same. While genes do not determine behavior, they play a huge role in what we do and why we do it. Genetics plays a major role in when and how development and learning occurs. For example, children are unable to walk before the age that is predetermined by their genome. However, while the genetic makeup of a child does determine the age range for when he or she will begin walking, environmental influences determine how early or late within the range the event will occur. The environment plays a big part in such

“Genes are paired- one copy of each gene pair is inherited from the mother and the other copy from the father.” If a genetic disorder is a shown trait through an individual the way it was inherited is through one of these two genes in the pair is abnormal and contains a extra gene. “Around 6,000 known genetic disorders are caused by inheriting an altered gene.” Down syndrome is one of these diseases with an extra affected chromosome (21). Down Syndrome affects physical growth and gives a person a disability in knowledge and development. It is an incurable disease and a individual must be born with it to occur. Cystic Fibrosis is another gene disorder it affects the lungs and digestive system and slowly decreases the effectiveness of its workings. Muscular dystrophy a disorder that can either start from birth or into late 40s depends on what type of genetic type of disease the person possesses. The disease slowly eats away at muscles and eventually leaving an individual struggling to move and slowly dying. PKU causes brain damage another genetic disorder can be detected from birth. Hereditary Hemochromatosis is apart of these genetic disorders and it is quite common “approximately 1 to 6 people in the United states”. This disease has no shown trait however it causes an iron overload in the body. The symptoms can be bad or not as effecting it is different with every person who has the disease. In all genetic disorders they aren’t common to all start from birth each can start from young to old and it is unknown to if a person has a disease until the symptoms

April of 1956 was when the cytogeneticists Joe Hin Tjio and Albert Levan at Lund University in Sweden discovered that the typical number of chromosomes in diploid human cells was 46-not 48 as had been believed for the previous thirty years. In the earlier years of the research, experimenting, and treatment testings, they discovered the cause of Jacob’s syndrome. Jacob’s syndrome is a rare, chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome rather than the typical male possession of one X and one Y chromosome meaning that individuals with this syndrome have one X and two Y chromosomes. With the showing of the atypical symptoms that are linked to this disorder, the seemingly affected males are tested,

Recurrence rates could be lower with aggressive surgery, recurrences often continue. After radical excision, the disease has been reported to recur in 33% of patients15. In our study, the recurrence rate was 12.5% (122 patients) in the conservative method group, which is within an acceptable range. While in the surgical method group, the recurrence rate was zero (0%) which can be attributed to the mild to moderate severity of the disease in that group, in addition to the proper postoperative care, change of personal hygiene, and compliance in avoiding

Bipolar disorder is a complex mental health disorder that is characterized by recurrent episodes of elevated or irritable mood with variable states of depression (American Psychiatric Association, 2013). Patients suffering from bipolar disorder not taking any maintenance medications have been shown to have relapse rates of approximately 61%, leading to significant impairments in functioning and quality of life (Goodwin et al., 2004). Anticonvulsants used as mood stabilizers have become the main therapy for preventing relapse of mood episodes (Stahl, 2013). A major concern that has risen from the use of anticonvulsants as mood stabilizers is the propensity to develop a major dermatologic emergency: Stevens-Johnson syndrome (SJS). A seven-year study completed by Devi et al. (2005) concluded that anticonvulsants were the cause implicated most in SJS, especially in the first eight weeks of treatment, and the main drug responsible (more than 80%) was carbamazepine. Providers involved in the initial and maintenance prescription of anticonvulsants as mood stabilizers, or for any other designated use, should be knowledgeable of the risk for SJS associated with these medications, and the benefit of using these medications as indicated.