Also known as incontinentia pigmenti (IP). A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (The name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) Other key features of IP include dental and nail abnormalities, bald patches, and (in about 1/3rd of cases) mental retardation. IP is an X-linked dominant with male lethality. The IP gene is in band q28 on the X chromosome. Mothers with IP have an equal chance of having a normal or IP daughter or a normal son. The IP sons die before birth. IP is also known as Bloch-Sulzberger syndrome.
- Syndrome, Boerhaave's
Spontaneous tearing and rupture of the esophagus. Typically, Boerhaave’s syndrome requires an operation for repair.
- Syndrome, Brown
An ophthalmology (eye) problem. Brown syndrome is an abnormality that is present at birth (congenitally) and is characterized by an inability to elevate the eyeball when trying to move the eyeball to the outside. Brown syndrome can also occur because of other conditions which affect the normal function of the eye muscles. The syndrome is […]
- Syndrome, burning mouth
An intense burning sensation on the tongue, often at the tip of the tongue. The burning mouth syndrome tends to develop in supertasters and post-menopausal women. Supertasters have an unusually large density of taste buds, each surrounded by pain fibers. Post-menopausal women with the burning mouth syndrome often lose their ability to sense bitter tastes. […]
- Syndrome, carcinoid
A syndrome due to carcinoid tumor which secretes large amounts of the hormone serotonin. The syndrome is directly due to the serotonin. Features include flushing and blushing, swelling of the face (especially around the eyes), flat angiomas (little collections of dilated blood vessels) on the skin, diarrhea, bronchial spasm, rapid pulse, low blood pressure and […]
- Syndrome, cartilage hair hypoplasia
Cartilage hair hypoplasia syndrome.