Harlequin Ichthyosis Research Paper

Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try

The symptons include facial disformities including downward slanting eyes, smaller lower jaw (also referred to as micrognathia),underdevloped zygoma, drooping

The mutated gene in Ichtyosis Vulgaris is on chromosome Iq21 and it comes out to be profilaggrin. That type of gene is part of a group of genes on chromosomes on Iq21 that encrypt the proteins made in terminally separating epidermis. With that gene mutated it changes the way the skin is created from its normal ways to its new dried up scaly style not the normal smooth refreshed skin most people have. You really have no way of changing this disease at all you were born with this gene, this mutated gene, this ruined chromosome it’s just the way you were meant. Live on with it would be the best way to go on.

The condition commonly first seems because anguishing bloating and also inflammation on the enormous digits.

If the disease is of the homozygous variety in a person it occurs in 1 in every 10,000 people. If the disease is heterozygous then in is found between 1 in every 5,000 people and 1 in every 15,000 people. It is more common in Venezuela then anywhere else, although it is discovered in about 240 people per year in the United States. A DNA marker G8 (D4S10) is closely linked to HD and has been identified as being on the # 4 chromosome and can detect Heterozygotes. (Encarta Encyclopedia) The connection between G8 and HD has not been clinically used because it’s a very serious disease. Theoretically a homozygote can be detected parentally. If a female has a child and she is tested positive for HD and has no history of it, then the father as well as the child a bound to end up with the disease. (Textbook

chance that their child will get it, too. This happens even if the child is

Sweet syndrome is a rare disorder characterized by fever and the sudden onset of a rash, which consists of multiple tender, red or bluish-red bumps or lesions. These lesions usually occur on the arms, legs, trunk, face or neck. In some cases, additional systems of the body can become involved including the musculoskeletal system such as inflammation of the joints (arthritis), the eyes such as inflammation of the conjunctiva or the membrane that lines the eyes (conjunctivitis), and the internal organs.

He goes into detail about the birthmark relating to the disease. It is caused by a “facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain” (Takeoka, 1994). Statistics shows that 96% of patients diagnosed with Sturge-Weber Syndrome have a visible stain at birth. The mark caused by venous dilation can appear as one large birthmark or several patches along the face. Not only does he talk about the facial aspects of the disease, but also the neurological part as well. Leptomeningeal angiomas are “demonstrated by structural neuroimaging that may be unilateral or bilateral; unilateral angiomas are more common” ( Takeoka, 1994). Depending on the location of leptomeningeal angiomas, the neurological effects can vary. They are usually located in the back of the brain in the occipital region that is on the same side of the port-wine birthmark. Some of the symptoms that involves leptomeningeal angiomas includes seizures (most common starting at the age of one), focal deficits (that can include hemianopsia and hemiparesis), and developmental disorders (“developmental delay, learning disorders, and mental retardation/intellectual disability; more common when angiomas are bilateral” (Takeoka, 1994)). Another abnormality caused by the disease is an increased

Enlarged hands and feet are common feature with acromegaly. People with this disorder often notice that they can no longer put on rings that used to fit and that their shoe size has progressively increased. Gradual changes in the shape of their face, such as a protruding lower jaw and brow, an enlarged nose, thickened lips, and wider spacing between the teeth can also be noted (Z. Killinger, J. Payer, I. Lazúrová et al 2010). Because it tends to progress slowly, early signs may not be readily apparent for several years. Sometimes, people notice the condition only by comparing old photographs. Some of the key signature features of this disorder are deepened husky voice as a result of enlarged vocal cords and sinuses,

This disease is caused when the baby skull joins together early. This is bad because it can disturb the baby’s growth for its head or the growth would be in a slow process. If the baby gets the surgery when they are little then they can live a healthy life. The bad part about it is that they have to take medication and

There is an appearance of muscular rash that is targeted like in appearance which appears abruptly, usually on the neck, face and upper trunk. These macules appear on the body which coalesce into large flaccid bullae and later slough off over a period of the next couple of days. Palms and soles are not spared and nails and eyebrows are also lost due to epithelial loss. The first manifestation is usually diffuse erythema of the skin. In severe cases, large epithelial sheets are peeled over pressure points which expose sensitive, tender and erythematous skin. Along with sloughing of skin, there is the presence of painful oral crusting, conjunctivitis, urethritis and vaginal synechiae. If bronchial epithelium is involved, there is a cough, dyspnea, pulmonary edema and hypoxemia due to plugging. Other late manifestations include hepatitis and

Anne Kaier decided wrote Finding Refuge With the Skin I’m In, which is about her life with Ichthyosis Vulgaris and how this skin condition has affected her life. While Kaier gives her own account of how Ichthyosis Vulgaris has affected her life with a few real life examples and stories, she also openly talks about her experiences and recounts how she is treated socially. While Kaier’s story is neither positive nor negative, it does highlight how she is treated, with fear or indifference by strangers most of the time. She talks about how she comforts herself, but how she struggles to interact with society because she feels like an outcast. Kaier also talks about the advice her doctors have given her that she should educate others about her condition

Hemifacial hypertrophy is a rare developmental anomaly exhibiting asymmetric growth of one or more body parts. The condition may either be isolated or associated with a variety of multi-dimensional and variably faceted syndromes. [7] Men are more commonly affected; right side more common and whites are more affected than blacks. [4] The condition is usually accentuated with age, especially around puberty. [7]

In some cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, with each pregnancy there is a 50 percent chance that each child will be affected. If both parents have achondroplasia, there is a 50 percent

bulging fontanelles (soft spots of the head) with or without enlargement of the head size