Hutchinson Gilford Syndrome

Kittel 3 Some physical signs of progeria are: * Bulging eyes * Narrow nose * Thin dry skin with dilated blue veins * Wrinkles around the mouth * Small chin and ears * Limited range of motion, joint stiffness * Few or no teeth * Short in stature, loss of muscle and body fat * High shrill voices The most cause for concern in children with progeria is ischemic stroke, and cardiovascular problems. The most common problem is that the progeria children may suffer from a cerebral infarction at four or five years of age. The blood vessels constrict causing a loss of oxygen and glucose to the brain and which result in speech problems, and further complicates their mobility. At two year of age the growth in length slows considerably, and their bodies are fragile. The average length of a child suffering from progeria is between 96cm and 120cm. The average life expectancy of a child with progeria is 13 years. There have been cases of a progeria child living till the age of 45 Years. The most common cause of death is myocardial infarction or congestive heart failure (Rastogi & Mohan, 2008). Some children despite the physical handicap presented by

Progeria: A Rare And Fatal Genetic Disorder Introduction Aging is an unavoidable stage of the body lifespan, which results in lower physiologic capacities, lower homeostasis, and high vulnerability to acquire diseases. Aging changes generally occur later in life, but one in every four or eight million newborns are born with Hutchinson Gilford Progeria Syndrome (HGPS), and manifestation of advance age related diseases like thin skin, osteoporosis, cardiovascular diseases, etc. Progerias is identified by physical and clinical features that portray premature ageing. This syndrome is a rare and fatal genetic disorder identified by accelerated premature ageing and extremely fast developed cardiovascular diseases.

Progeria Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a

SLE diagnosis is made on 4 findings present at the same time or in a series. 11 common findings include: malar rash, disc shaped rash, photosensitivity, oral ulcerations, nonerosive arthritis, serositits, presence of ANA, and renal, neurologic, hematologic, and immunologic disorders. The X-ray finding is also significant, because the inflammation without erosion of the joints is a key finding in SLE. Other labs (like those listed above) are used in combination to also aid in diagnosis of SLE.

One hundred and thirteen children have the mind of an adolescent, but the body of the elderly. (Gordon) These children are dealing with the deadly disease known as Progeria. The main cause of this is a minute genetic mutation, which leads to an abundant amount of symptoms. Progeria does not affect a ubiquitous number of people; however, it still has an impact on the victim and their families. In the beginning stages, the child grows slowly without any weight gain resulting in the appearance of aging. The child's life is also affected due to the symptoms, tests, and treatments they experience. Progeria is a rare ailment in adolescents that stems from a specific genetic abnormality for which there is no current cure, and it dramatically

The patient is a 72 year old female. She has been experiencing progressively worse pain and stiffness in her joints. She is reports that she is having decreased range of motion, redness, and swelling in her joints. She is reports symptoms occur in the same joints on both sides of her body. She is also reporting the symptoms are worse when she first wakes up in the morning.

Progeria takes more than a physical toll; however: the emotional impact for a child living with a rare and fatal disease can be terribly difficult and traumatic. Since children with Progeria have normal intelligence, most of them go to school like every other child. However, there can be a downside because these children have a far greater risk of being bullied. Additionally, these children are compelled to do physical activities somewhat differently. Since they are so petite and have fragile bones, it is hard for them to get involved in any sport. They also get tired very easily so they need to take constant breaks from strenuous activities. Even walking a short distance can cause harm to the body. Children with Progeria need to make sure to stay well-hydrated and have regular, minor physical activity (Diseases) that does not put them at risk for bone or cardiovascular injury. The emotional backlash

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

complex disease since it affects various parts of the body. The gene mutation causes a defect of a

Stevens-Johnson Syndrome, a form of Toxic Epidermal Necrolysis, is a rare life-threatening disorder of the skin and mucous membranes which arises from an intense autoimmune sensitivity to mild infections, cancers, and most commonly, medications.

We’ve all heard this phrase from the kids we know and love, “I’m a big boy!” Well, progeria makes this true in a sense. According to The Mayo Clinic, Progeria, an exceptionally rare disorder, also known as Hutchinson-Gilford syndrome is defined as a progressive genetic disorder that causes children to

It is important to differentiate between erythema multiform and Stevens johnson syndrome: Erythema multiform: target lesion is the classic presentation, and the 3 skin manifestations are dusky center, inner pale ring, and erythematous outer border. It usually affect age 10-40y/o. Hypersensitivity reaction is most commonly triggered by infection so treat the underlying cause. HSV is most common cause so treat with acyclovir. It is a self limiting condition.

Progeria is a rare, fatal, genetic condition that comes from the Greek word progeros meaning prematurely old. In the greek language, the word ‘pro’ means before and the word ‘geras’ means old age. Another name for progeria is Hutchinson-Gilford Progeria Syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England.

There is a final problem that the account of the overall losses has to face: the progeria patient. Progeria is a congenital condition that accelerates the aging in such a way, that the children suffering from it, start ageing at age two and do not normally survive their teens or early twenties. They have average to higher that average mental capabilities and they do not suffer from anything apart from the conditions we normally link to old age, such as cardiac condition or kidney failure. Imagine a little girl aged 12 that dies from the complications of the disease. We would normally think, according to McMahan, that the progeria patient suffers a bigger loss than the geriatric patient. However, according to our assessment, it should be the