About The Medical Condition Phacomatosis, Bourneville
Find the definition of the medical term Phacomatosis, Bourneville. Phacomatosis, Bourneville defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phacomatosis, Bourneville
| Phacomatosis, Bourneville Medical Condition |
|---|
What's The Definition Of The Medical Condition Phacomatosis, Bourneville?
An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Crest, Neural ‐ A strip of specialized ectoderm flanking each side of the embryonal…
- PN-200-110 ‐ A potent antagonist of CALCIUM CHANNELS that is highly selective…
- Antibodies, Allotypic ‐ Hereditary serologic types based on antigenic differences in…
- Photosystem II Reaction Center ‐ A system consisting of proteins and cofactors which facilitates…
- Fatigue, Voice ‐ Disorders of voice pitch, loudness, or quality. Dysphonia refers…
- Drug Combinations, Anticancer ‐ The use of two or more chemicals simultaneously or sequentially…
- Conformation, Protein beta-Sheet ‐ The level of protein structure in which regular hydrogen-bond…
- Stove-in Chest ‐ A complication of multiple rib fractures, rib and sternum fractures,…
- Prenatal Injury ‐ Delayed effects on offspring of maternal or fetal prenatal exposure…
- Rates, Fertility ‐ The number of births in a given population per year or other…