Notes On The Genetic Disease Hypertrichosis

As the Directors at Sharp Reese Medical Facility it is important to raise awareness about the importance of the liver to the human body and the many important functions that it performs for the body such as digestion and the filtration of toxins and drugs from

The patient presents with hair loss that began 5 months ago. The problem is mild to moderate and has worsened. The initial location of hair loss was the diffuse scalp and temporal region that occurred gradually. Symptoms are associated with very low carbohydrate dieting and new medication within 3 - 6 months (Aleve). Symptoms are not associated with hair pulling, increased psychological stress, fever, recent illness, recent surgery or scalp rash. Relevant history positive for family history of hair thinning on both sides. Relevant history negative for anemia, hyperthyroidism, hypothyroidism,

Many of the facts and the on set of the hair loss are unknown. Many doctors and researchers have came up with a great amount of hypothesis and theories on the disease. Many suggest that it is an autoimmune disease. They also suggest that it’s where ones own immune system prevents hair follicles from producing hair fiber.

ectodermal dysplasia, which is a disorder that stops him from perspiring, sparse hair growth and

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

recessive disorder of the exocrine glands. About one in every 2500 Caucasians is affected, and

Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family

Alopecia areata (AA) is an autoimmune disease that causes temporary or permanent hair loss. The body attacks its own hair follicles, which ultimately causes them to stop growing. Typically, it is found in small patches on the scalp but it can be diagnosed anywhere on the body. According to Petukhova et al. (2011) this disease physically impacts 5.3 billion people just in the United States, affecting about 1-2% of the population. There is no known cure of AA and there is little evidence suggesting it is stress related. Geneticists have been able to use genome wide association studies (GWAS) to recognize genes that have affiliation with the onset of alopecia areata.

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Exact cause remains unidentified, however it is believed that the patient’s genes and environment may be contributing factors.

Since this is such a common condition and may affect the quality of life, it is important to become educated about its

McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. Prognosis is good if it is diagnosed and treated promptly. Most mortality is associated with PFD. Diagnosis may include hormone level monitoring, imaging and GNAS1 genetic testing. Treatment is dictated by the tissues

Congenital Hypertrichosis Lanuginosa is a genetic disorder that is a change in a person’s X chromosome, #17. This disorder is also referred to as werewolf syndrome, the people affected would be called dog-men, ape-men, and even werewolves. This disorder affects both genders. With this genetic disorder, there are symptoms of excessive hair, the delayed growth of teeth, hearing issues, and very thick eyebrows. Less common symptoms are differences of skin pigmentation. Those affected by this will not grow hair on the soles of their feet or the palms of their hands.

Other medical complications include infection, permanent loss of hair, repetitive stress injury, carpal tunnel syndrome, and gastrointestinal obstruction as a result of trichophagia.[1] In trichophagia, people with trichotillomania also ingest the hair that they pull; in extreme (and rare) cases this can lead to a hair ball (trichobezoar).[3] Rapunzel syndrome, an extreme form of trichobezoar in which the "tail" of the hair ball extends into the intestines, can be fatal if misdiagnosed.[3][10][11][12]

Hair loss is a condition affecting both men and women. There are several causes of hair loss. In men, hereditary factors play an important role in hair loss. Such a condition is termed as male pattern baldness or androgenetic alopecia. This is linked to elevated levels of DHT in the scalp. This is characterized by hair loss in the temples and top regions of head and presence of thinning hairs elsewhere.