A physical examination reveals the following: leonine facies; loss of eyebrows and eyelashes; nodules on the sclera; a depressed nasal bridge; adipose fat deposits in the breast; testicular atrophy; many symmetrical, flat, discolored areas on the skin without defined borders; numerous nodules & broad, raised areas on the skin; partial loss of pinprick and temperature sensation; no anhidrotic changes; symmetrically enlarged ulnar and common peroneal nerves.…
- It is very rare in the general population. The genetic mutations that cause this disease are more…
The coin-sized patches are mainly observed in this type of hair loss disease leading to the baldness over the scalp, eyebrows, eyelashes, & beard.…
It is caused by a mutation in the DNA that codes for dystrophin. This is a protein that helps…
2. Hypertrichosis excessive hair on the shoulders, face and ears; implicate it to a rearrangement of chromosome 8.…
sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made…
Noonan Syndrome is a genetic disorder that causes a person not to develop properly in various areas of the body. These defects can occur in different areas, such as facial characteristics, heart defects, short stature, development delays and skeletal malformation. Symptoms from those areas can cause a person to have abroad or webbed neck, minor eye problems, abnormal bleeding, an unusual chest shape, which is often seen at birth, and late puberty particularly in males. Many males with Noonan Syndrome suffer from cryptorchidism, due to late puberty which occurs at ages 14-15. Women with this disorder have more complications, when menstruating due to excessive bleeding. Noonan syndrome occurs when changes…
will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…
As an X-linked disease, Menkes kinky hair (MKH) disease characteristically occurs in males who are 2-3 months. Individuals show lack of development that is typically associated with others their age and the onset of an abnormally low pressure of the intraocular fluid, and seizures. In the natural history of classic Menkes kinky hair disease, death usually occurs by the time the child with Menkes kinky hair disease is 3 years…
As previously mentioned, this disorder is a part of the larger group of Ichthyosis disorders. Some forms of Ichthyosis can be contracted due to the recipient’s environment. However, Harlequin is spread genetically. Males have a higher chance of contracting the disorder, since it is present in the X chromosome. Sometimes, a female’s second X chromosome can take over, and keep the body functioning normally. However, with a male’s XY chromosome makeup, the body is not able to replace the infected gene, causing the person to be infected with Harlequin Ichthyosis (DermNet NZ, 2003).…
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, rheumatoid arthritis, vitiligo or ulcerative colitis. The patient is not currently pregnant. Associated symptoms include intentional weight loss of 50 lbs over 10 months. Pertinent negatives include anxiety, depression, dry scalp, fever, heat intolerance, itchy scalp, rash, scalp kerion, scalp tenderness or skin sores. Noticed hair thinning for about 5 months. No bald spots, lesions on scalp or skin. Estimates she has lost 25% of hair thickness.…
* This one may be rare, but it can cause hepatic cancer and noncancerous tumors to form.…
• Liver disease (possibly presenting as yellowing of the eyes and/or skin), liver failure (very rare),…
Of the eleven loci responsible for this syndrome, nine have already been identified. The proteins that are encoded by these genes are actually part of a dynamic protein complex that occurs in the hair cells of the inner…
Shape-Shifters (were-wolves) age more slowly than humans but are still mortal. Most live up to 120 years old. There is a very rare illness called congenital growth-hormone condition which causes people to look younger than they actually are. Doctors claim this is down to a lack of hormones but could this be explained by shape-shifters? Could it be possible that people who suffer from this disease are descendents and are actually were-wolves? Nowadays stories and sightings of were-wolves are very low and rare, could this explain why the disease its self is so rare and only affects certain people?…