Hutchinson Gilford Progeria Syndrome Essay

No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,

Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as

weight loss. Her physician noted small patchy areas of vitiligo and a scaly rash across her nose, cheeks, back,

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

At present, there is no cure for the disease, but dynamic progress has been made as researchers explore this illness. HD is inherited as an autosomal dominant condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease occurs wit h 60 or more repeats, linking the longer chains of CAG sequences to earlier and more aggressive onset of the disease.

Lamin A helps sustain the normal structure of a cell’s nucleus, which contains our genetic information. In Progeria, this protein takes on an abnormal toxic form called “Progerin”. Many cells in the body make this progerin protein in small amounts, including normal healthy individuals. It’s thought that some characteristics of normal aging can be the result of this gradual buildup of progerin over a person’s lifetime. Progerin can’t be properly processed by the cell and will build up inside the cell’s nucleus, eventually causing the cell to become deformed or collapse (Figure 2).

The recognition of the illness is based on common features and a detection of heterozygous LMNA pathogenic variants. Some of the symptoms are stiff joints, fragile bones, hip dislocation, insulin resistance, some hearing loss, loss of fat and muscle mass,

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 age rapidly, beginning in their first two years of life. Now mentally these kids are as young as their own age, but their bodies are biologically much older than they should be. These kids’ bodies show symptoms like under-weight/height, large head for the face, hair loss, high pitched voice, visible veins, and wrinkled skin. Aside from this the children experience problems that normal only senior would have such as heart disease, and Arthritis.

Another identified problem is her poor skin integrity as a result of having a paper-thin skin, which is prone to skin tears, and the presence of a small pressure ulcer in her coccyx area. She is also malnourished as supported by her low BMI. This means that there is not enough nourishment to promote healthy skin healing and regeneration. Smoking can also exacerbate this problem.

The main characteristics of harlequin ichthyosis include thickening of the keratin layer in fetal human skin. A baby born with this skin related medical condition will possess very hard, thick skin which covers the most portions of the body. The skin contains large scales shaped like diamonds, which tend to have a red, pinkish color. The condition also usually involves abnormal contractions of the ears, eyes, and the movement of legs and arms is usually limited due to the condition. In some cases the condition may also involve restricted movement of the chest, which usually ends in lots of different breathing difficulties that often resort in respiratory failure. Normal skin folds easily, but the skin of an infant affected by harlequin ichthyosis develops cracks at those areas of the body. Various

This research was conducted to demonstrate the usage of allopurinol can result in Cutaneous Hypersensitivity reaction. Stevens Johnson’s syndrome (SJS) is a cutaneous hypersensitivity reaction which occurs in 3-5% of hospitalized patients.1 These severe cutaneous adverse reactions are characterized by epidermal necrosis, extensive detachment of the epidermis, erosions of mucous membranes and severe constitutional symptoms.4 Despite the Low incidence, SJS has a high mortality rate as stated by BMC Medical Genetics. According to Pharmacogenetics Genomics, Medications are considered to be the major cause of Stevens Johnson’s syndrome (80%). The most common medication is Allopurinol. Allopurinol, an inhibitor of xanthine

In 1886, the first case of Progeria was diagnosed by Dr. Jonathan Hutchinson. Progeria is a pre-mature aging system which is both rare and fatal. He began documenting features of a six year old boy who had symptoms of hair loss and atrophy of skin. Then, in 1897, Dr. Hastings Gilford pronounced Progeria as a clinical entity. The name Progeria comes from the Greek term “progeros" meaning, “prematurely old”. Virtually nothing was known about Progeria 30 years ago. Since it is an extremely rare disease, research didn’t begin until the 1990’s. This very rare disease occurs during childhood and is characterized by dramatic, premature aging. Hutchinson-Gilford progeria syndrome (HGPS) is the most severe form of the disease. Currently, the condition

2) The third group instructed the class about progeria (Hutchinson-Gilford progeria syndrome, or HGPS). Progeria is a rare fatal genetic syndrome characterized by accelerated aging in children. All children with this disease have similar symptoms that go together, therefore, it is considered a syndrome. Children with progeria have remarkably similar appearances, regardless of race.

Recognition of different forms of Progeria has developed over the years but the most recognized classic is Hutchinson-Gilford Progeria Syndrome (HGPS). This rare disease was named after Jonathan Hutchinson and Hastings Gilford who worked separately on this disease. It was first observed by Jonathan Hutchinson, a London surgeon, in 1886. He recorded a 6-year old boy in England who exemplified premature aging:

Blizzard and Albert’s3 first reported Congenital Hypopituitarism in 1956, which described a newborn with microphallus and cryptorchidism, presented with apneic and cyanotic spells in the first few hours of life and died within 24hours.. Our patient presented in the one and half month age hours of life in septic shock with