Here is the list of diseases and health issues that start with letter “X“:
- Xanthinuria
- Xeroderma pigmentosum
- Xerophthalmia
- X-linked ichthyosis
- XX male syndrome
- XY female syndrome (XY gonadal dysgenesis)
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase. It was first formally characterized in 1954. It can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid.
Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.
There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas (basaliomas) and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This disease involves both sexes and all races, with an incidence of 1:250,000 and a gene frequency of 1:200. XP is roughly six times more common in Japanese people than in other groups.
Some of the most common symptoms of XP include: A severe sunburn when exposed to only small amounts of sunlight; development of many freckles at an early age; rough-surfaced growths (solar keratoses), and skin cancers; eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded; blistering or freckling on minimum sun exposure; spidery blood vessels; limited growth of hair on chest and legs; scaly skin; irregular dark spots on the skin.
The most obvious, and often important part of treatment, is avoiding exposure to sunlight. Keratoses can also be treated using cryotherapy or fluorouracil. A few places specialize in XPS treatment, one of most notable being Camp Sundown in Craryville, New York.
Fewer than 40% of individuals with the disease survive beyond the age of 20. Some XP victims with less severe cases do manage to live well into their 40s.
Xerophthalmia is a medical condition in which the eye fails to produce tears. It may be caused by a deficiency in vitamin A and is sometimes used to describe that lack, although there may be other causes. Xerophthalmia caused by a severe vitamin A deficiency is described by pathologic dryness of the conjunctiva and cornea. The conjunctiva becomes dry, thick and wrinkled. If untreated, it can lead to corneal ulceration and ultimately to blindness as a result of corneal damage.
Xerophthalmia is a term that usually implies a destructive dryness of the conjunctival epithelium due to dietary vitamin A deficiency — a rare condition in developed countries, but still causing much damage in developing countries. The damage to the cornea in vitamin A associated xerophthalmia is quite different from damage to the retina at the back of the globe, a type of damage which can also be due to lack of vitamin A, but which is caused by lack of other forms of vitamin A which work in the visual system. Xerophthalmia from hypovitaminosis A is specifically due to lack of the hormone-like vitamin A metabolite retinoic acid, since (along with certain growth-stunting effects) the condition can be reversed in vitamin A deficient rats by retinoic acid supplementation (however the retinal damage continues). Since retinoic acid cannot be reduced to retinal or retinol, these effects on the cornea must be specific to retinoic acid. This is in keeping with retinoic acid’s known requirement for good health in epithelial cells, such as those in the cornea.
Treatment can occur in two ways: treating symptoms and treating the deficiency. Treatment of symptoms usually includes use of artificial tears in the form of eye drops, increasing the humidity of the environment with humidifiers, and wearing wrap around glasses when outdoors. Treatment of the deficiency can be accomplished with a Vitamin A or multivitamin supplement or by eating foods rich in Vitamin A. Treatment with supplements and/or diet can be successful until the disease progresses as far as corneal ulceration, at which point only an extreme surgery can offer a chance of returning sight.
X-linked ichthyosis, also known as “Steroid sulfatase deficiency,” and “X-linked recessive ichthyosis”) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. X-linked ichthyosis can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.
The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer.
Because XLI is caused by a gene mutation or deletion, there is no “cure.” One of the aims of treatment is to reduce scaling by removing the excess, flaky scales, and keep the skin hydrated. This can be achieved using a variety of topical creams.
XX male syndrome (also called de la Chapelle syndrome, for a researcher who characterized it in 1972) is a rare sex chromosomal disorder. Usually it is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.
Symptoms usually include small testes and subjects are invariably sterile. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue. According to research at the University of Oklahoma health science centers, most XX males are not stereotypically feminine and are typical boys and men although other reports suggest that facial hair growth is usually poor and libido is diminished, with notable exceptions. Males typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Females typically have two X chromosomes. XX males have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male; they are genetically female but otherwise appear to be male.
XY female syndrome (XY gonadal dysgenesis) or Swyer syndrome is a type of hypogonadism in a person whose karyotype is 46, “XY”. The person is externally female with streak gonads, and left untreated, will not experience puberty. Such gonads are typically surgically removed and a typical medical treatment would include hormone replacement therapy with female hormones.
Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. As the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse.
Upon diagnosis, estrogen and progesterone therapy is typically commenced, prompting the development of female characteristics.
