Health and Fitness

  Keratosis Follicularis OVERVIEW Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. These hardened, scaly lesions may gradually grow bigger or spread. The nails and mucous membranes are also affected in most patients. Individuals may have periods of time when signs improve (remission), but the lesions usually recur (relapse). The specific problems vary from one individual to another. Keratosis follicularis is inherited in an autosomal dominant pattern. SYMPTOMS The symptoms of keratosis follicularis usually become apparent during the teen-age years often around puberty. Symptoms may develop in younger or older individuals, but rarely develop after the third or fourth decade of life. The severity of the disorder and the specific symptoms that develop vary, even among individuals within the...

  Hepatoblastoma Overview Hepatoblastoma (pronounced “hep-ah-to-blas-to-mah”) is a very rare liver cancer that typically affects children ages 1 to 3. Surgeons may be able to cure hepatoblastoma if it’s diagnosed when liver cancer tumors are small enough to be completely removed with surgery. Medical researchers are evaluating ways to treat hepatoblastoma that surgery can’t remove or that’s spread (metastasized). Hepatoblastoma is a rare, malignant (cancerous) tumor of the liver. It is found 90 percent of the time before 3 years of age. The cause of hepatoblastoma is most often not known. Some genetic disorders put a child at greater risk. Symptoms Hepatoblastoma develops over time. If your child has hepatoblastoma, you may not notice any changes in your child’s body until the tumor in their liver has grown large enough to affect their overall health or behavior. Common symptoms include: A painful lump in the middle or upper right side of your child’s belly (abdomen). Persistent na...

  Keratomalacia Overview Keratomalacia is an eye (ocular) condition, usually affecting both eyes (bilateral), that results from severe deficiency of vitamin A. That deficiency may be dietary (i.e., intake) or metabolic (i.e., absorption). Vitamin A is essential for normal vision as well as proper bone growth, healthy skin, and protection of the mucous membranes of the digestive, respiratory, and urinary tracts against infection. Early symptoms may include poor vision at night or in dim light (night blindness) and extreme dryness of the eyes (i.e., xerophthalmia), followed by wrinkling, progressive cloudiness, and increasing softening of the corneas (i.e., keratomalacia). With advancing vitamin A deficiency, dry, “foamy,” silver-gray deposits (Bitot spots) may appear on the delicate membranes covering the whites of the eyes. Without adequate treatment, increasing softening of the corneas may lead to corneal infection, rupture (perforation), and degenerative tissue changes, resulting...

 Keratolytic winter erythema Overview Keratolytic winter erythema is a rare inherited skin disorder characterised by recurrent palmoplantar erythema and peeling that is often worse in winter months. It is also known as Oudtshoorn disease and erythrokeratolysis hiemalis. Keratolytic winter erythema was first described in 1977 by dermatologists in South Africa who observed a skin condition prevalent in families in the Oudtshoorn area of Western Cape  The prevalence of keratolytic winter erythema is estimated at 1 in 7,200 white Afrikaans speakers  It is inherited in a monogenic autosomal dominant pattern with high penetrance but variable expressivity. It is usually diagnosed in childhood or early adult life. Keratolytic winter erythema (KWE) is an extremely rare form of skin shedding that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has NOT been determined. The disorder is characterized by...

  Bulimia Overview Bulimia (boo-LEE-me-uh) nervosa, commonly called bulimia, is a serious, potentially life-threatening eating disorder. People with bulimia binge eat. This means people feel like they've lost control over their eating. They eat large amounts of food in one sitting. This often occurs in secret, and they often feel very guilty and shameful. Then they try to get rid of the food and extra calories in an unhealthy way, such as vomiting or misusing laxatives. This is called purging. If you have bulimia, you probably focus on your weight and body shape even when you're trying to think about other things. You may judge yourself severely and harshly for what you see as flaws in your appearance and personality. Bulimia is related to how you see yourself — not just about food. It can be hard to overcome, and it can be dangerous. It's important to remember that an eating disorder is not something you choose. Bulimia is a complex illness that affects how your brain work...

  Keratoconus Overview Keratoconus (ker-uh-toe-KOH-nus) is an eye condition in which your cornea — the clear, dome-shaped front of your eye — gets thinner and gradually bulges outward into a cone shape. A cone-shaped cornea causes blurred vision and may cause sensitivity to light and glare. Keratoconus usually affects both eyes. However, it can affect one eye more than the other. It generally begins to affect people between the late teens and 30 years of age. The condition may progress slowly for 10 years or longer. In the early stages of keratoconus, you might be able to correct vision problems with glasses or soft contact lenses. Later, you may have to be fitted with rigid, gas permeable contact lenses or other types of lenses, such as scleral lenses. If your condition gets worse, you may need a cornea transplant. A procedure called corneal collagen cross-linking may help to slow or stop keratoconus from progressing, possibly preventing the need for a future cornea transplant. Th...

Keratitis Ichthyosis Deafness Syndrome OVERVIEW Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known as the ichthyoses. KID syndrome is inherited as an autosomal dominant trait. SYMPTOMS KID syndrome is present at birth. Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. Most patients develop eye findings, predominantly keratitis (superficial defects of the cornea), which may result in the eyes being very sensitive to light (photophobia), small blood vessels growing from the ...