What is Legius syndrome?
What is Legius syndrome?
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.
What causes Legius syndrome?
Legius syndrome is caused by heterozygous inactivating mutations in the SPRED1 gene (15q14), involved in regulation of the RAS-MAPK signal transduction pathway. Nearly 100 different mutations in this gene have been identified. The proportion of cases related to de novo mutations is not yet known.
What is Watson’s disease?
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.
Can you have café au lait spots without 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.
How is Legius syndrome diagnosed?
How Is Legius Syndrome Diagnosed? At birth, the delivery team may notice the baby’s wide-set eyes and suggest genetic testing. But in most cases, doctors find the condition only after other signs happen, such as café-au-lait spots.
How rare is Costello syndrome?
This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.
What percentage of people have café-au-lait spots?
Approximately 10% of the general population has one or two café-au-lait spots. However, having more than 5 café-au-lait spots (referred to as multiple CALS) is rare.
What is the life expectancy of a person with neurofibromatosis?
If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.
What is cafe au lait spots?
Cafe au lait (ka-FAY o lay) birthmarks are flat areas of darkened skin, anywhere from tan to dark brown. They are permanent and very common. They can occur anywhere on the body, and the size increases as the child grows. Usually, no treatment is needed. Cafe au lait spots usually appear singly.