The term phakomatoses refers to a broad group of neurologic (brain, spine, and peripheral nerve) disorders that are also known as neurocutaneous syndromes.

What is a Phakomatoses?

The term phakomatoses refers to a broad group of neurologic (brain, spine, and peripheral nerve) disorders that are also known as neurocutaneous syndromes.

What are neurocutaneous syndromes?

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.

What is Phakomatoses not elsewhere classified?

8 for Other phakomatoses, not elsewhere classified is a medical classification as listed by WHO under the range – Congenital malformations, deformations and chromosomal abnormalities .

What are Neurocutaneous markers?

What are Neurocutaneous lesions?

Neurocutaneous syndrome is a broad term for a group of rare neurological (brain, spine, and peripheral nerve) disorders. These diseases are lifelong conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. The most common disorders found in children are skin lesions.

What is Sturge Weber Syndrome?

Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth.

What is Von Hippel-Lindau disease?

Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. VHL-related tumors include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina.

Do cafe au lait spots always mean neurofibromatosis?

Indeed, anyone can have 1 or 2 cafe-au-lait spots without having neurofibromatosis. The only significance to the cafe-au-lait spot is that it suggests the possibility that a person might have NF1. People with NF1 usually have many cafe-au-lait spots, sometimes hundreds, and almost always more than 6.

Is cafe au lait spots normal?

Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.

What is Sturge-Weber syndrome symptoms?

Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma ). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.

What are the different types of phakomatoses?

Numerous different phakomatoses have been identified. The most common of these neurocutaneous syndromes are neurofibromatosis (NF), tuberous sclerosis (TS), ataxia-telangiectasia (A-T), Sturge-Weber syndrome (SWS), and von Hippel-Lindau (VHL) disease.

What is the pathophysiology of phakomatosis?

Phakomatoses are characterized by variable multisystem involvement. Typically, they affect the central nervous system (CNS), the eyes, and the skin, all of which derive from the same ectodermal origin. [1]

What is Werdnig-Hoffman disease?

[Medline]. Spinal muscle atrophy, Werdnig-Hoffman disease. Small muscle fibers within separate muscle fascicles. Spinal muscle atrophy, Werdnig-Hoffman disease. Marked variation in muscle fiber size, as well as relative increase in associated connective tissue. Spinal muscle atrophy, Kugelberg-Welander disease.