Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance asks us to observe Tuberous Sclerosis Month in May. The disease affects about 1 million people worldwide. A genetic disorder characterized by an abnormal growth in the brain that looks like a root or tuber, this disease is also known as adenoma sebaceum and Bourneville's Disease. It is a neurocutaneous illness because of extensive involvement of both the nervous system and the skin or integumentary system.

Skin involvement are patches of depigmented skin, raised bumps with orange-peel texture and red lumps on the face filled with blood vessels (these are the adenoma sebaceum). Neurological involvement can manifest as seizures and mental retardation due to the growths in the brain.

Although it is an inherited disease, it sometimes appears as a new genetic mutation, meaning there is no family history of the illness. Bertalan Mesko, a Hungarian medical student and one of the luminaries of the medical blogosphere, writes an excellent science/health blog, ScienceRoll. One of his most recent posts is a "directory" of all of the best resources about genetics and genetic diseases available on the Web today. Anyone with a genetic illness or an interest in this field will find something of interest in his blog.

Thank you Breno Abreu for use of photo Glass Alpha Helix.

Labels: genetic, ScienceRoll, tuberous sclerosis

Permalink | Email Post