What is Phakomatosis?
Phakomatoses (also referred to as neurocutaneous syndromes) are a group of genetic and acquired disorders that derive their collective name from the Greek noun phakos (“lentil, spot”) and the Greek word terminations -oma (signifying a tumor or neoplasm) and -osis (signifying a process, especially a disease or abnormal …
What are the symptoms of Phakomatoses?
Most commonly, the syndrome causes neurological complications, especially epilepsy and seizures, learning difficulties, diabetes mellitus, and other cardiac and renal complications. Dental defects including hyperplastic gingivitis are also symptomatic of this condition.
What is a Neurocutaneous disorder?
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. Each disorder has different symptoms.
What are the Neurocutaneous markers?
The 3 most common types of neurocutaneous syndromes are tuberous sclerosis (TS), neurofibromatosis (NF), and Sturge-Weber disease. These diseases are all present at birth (congenital). They are caused by gene changes. A neurocutaneous syndrome is a lifelong condition that has no cure.
What is Von Hippel Lindau?
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.
What causes von Recklinghausen disease?
The cause of VRD is a genetic mutation. Mutations are changes in your genes. The genes make up your DNA, which defines every physical aspect of your body. In VRD, a mutation occurs on the neurofibromin gene, causing an increase in the development of cancerous and noncancerous tumors.
What is TSC?
Tuberous sclerosis (also called tuberous sclerosis complex, or TSC) is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
What is Sturge-Weber Syndrome?
Sturge-Weber syndrome (SWS) is a rare vascular disorder characterized by the association of a facial birthmark called a port-wine birthmark, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma.
What are ash leaf spots?
Hypopigmented macules, also known as “ash-leaf spots,” can be present at birth and are most common on the trunk and lower extremities. They appear in 80 percent of persons with tuberous sclerosis by one year of age. Thus, they are the earliest indicator of this disorder.
Do cafe au lait spots always mean neurofibromatosis?
A: Not necessarily — there’s no connection between the number of café-au-lait spots and the severity of NF1. Q: If my child has many café-au-lait spots, does that mean that she’ll develop many neurofibromas? A: No, all factors of NF1 are independent: Many spots don’t mean many neurofibromas.
Which is the most common form of phakomatosis?
The phakomatoses are systemic disorders with neurologic, ophthalmic, and cutaneous manifestations. A common feature is multiorgan hamartomas. The most common are neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau syndrome.
How is phakomatosis related to neurocutaneous melanosis?
Phakomatosis pigmentovascularis and neurocutaneous melanosis are briefly described. The characteristic systemic manifestations of the phakomatoses are due to the development of hamartomas, which are benign tumors arising from tissues normally present in a specific organ ( Box 64.1 ).
What kind of birthmark is phacomatosis pigmentovascularis?
Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks. [1]
