Who is most likely to get Proteus syndrome?
Who is most likely to get Proteus syndrome?
Classically, males have been thought to be more commonly affected than females, but new studies with genetically confirmed cases have not yet been published. The genetic mutation that causes Proteus Syndrome is a somatic mutation that occurs after conception and is propagated in one or more subsets of embryonic cells.
What is the history behind Proteus syndrome?
The syndrome is named after the Greek sea-god Proteus, who could change his shape. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. American pathologist Michael Cohen described it in 1979.
What is a Harlequin baby?
Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating.
Can people with Proteus syndrome have children?
Adults with Proteus syndrome have never had any affected children.
How does Proteus syndrome change the body?
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.
Who is the oldest person with harlequin ichthyosis?
The oldest known survivor is Nusrit “Nelly” Shaheen, who was born in 1984 and is in relatively good health as of June 2021.
Can you get Proteus syndrome later in life?
The condition can affect quality of life, but people with Proteus syndrome can age normally with medical intervention and monitoring.
What makes Proteus syndrome a rare genetic disorder?
Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas).
When does overgrowth of Proteus syndrome become apparent?
The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes more severe with age.
What are the treatment options for Proteus syndrome?
Many patients with Proteus syndrome are followed by several specialists such as a geneticist, a pediatrician, a dermatologist, and others. [2] Treatment of the overgrowth include orthopedic procedures to delay or stop linear bone growth and correction of skeletal deformities such as scoliosis.
How is ultrasound used to diagnose Proteus syndrome?
Ultrasound is used to detect scrotal or ovarian masses and can be used to evaluate deep vein thromboses. The treatment of Proteus is directed toward the specific symptoms that are apparent in each individual. Multiple orthopedic procedures are usually necessary to try and control the rapid overgrowth associated with Proteus syndrome.
Who is most likely to get Proteus syndrome? Classically, males have been thought to be more commonly affected than females, but new studies with genetically confirmed cases have not yet been published. The genetic mutation that causes Proteus Syndrome is a somatic mutation that occurs after conception and is propagated in one or more subsets…