How does a person get Proteus syndrome?
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not.
What are symptoms of Proteus syndrome?
Symptoms of Proteus syndrome
- asymmetric overgrowths, such as one side of the body having longer limbs than the other.
- raised, rough skin lesions that may have a bumpy, grooved appearance.
- a curved spine, also called scoliosis.
- fatty overgrowths, often on the stomach, arms, and legs.
What does Proteus syndrome do?
Overgrowth in Proteus syndrome is usually severe and typically deforms bones to the point that they are unrecognizable. The spine may be affected, resulting in scoliosis – a condition in which the spine is abnormally curved. Progressive, bony overgrowth eventually affects the joints limiting range of motion.
What is the life expectancy of a person with Proteus syndrome?
Life expectancy is 9 months to 29 years, according to the severity of the abnormalities. The fourth leading cause of premature death is pulmonary thromboembolism and respiratory failure, which are predisposed by vascular malformations, surgical convalescence, and (in extreme cases of deformity) by restricted mobility.
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 killed the elephant man?
Asphyxia
Joseph Merrick/Cause of death
Merrick’s death was ruled accidental and the certified cause of death was asphyxia, caused by the weight of his head as he lay down. Treves, who performed an autopsy, said Merrick had died of a dislocated neck.
Who usually gets Proteus syndrome?
Is Elephant Man still alive?
Deceased (1862–1890)
Joseph Merrick/Living or Deceased
What is a Harlequin baby?
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures).
Is Crouzon syndrome a disability?
The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes ( mutations ) in the FGFR2 gene and is inherited in an autosomal dominant manner.
How does Proteus syndrome affect the human body?
Proteus syndrome is characterized by excessive growth of a part or portion of the body. 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.
Is there a cure or treatment for Proteus syndrome?
Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome. Objective:
What are the diagnostic criteria for Proteus syndrome?
The diagnosis of Proteus syndrome is based on clinical criteria that include three general characteristics and a specific symptom checklist. A mutation in the AKT1 gene can be identified in more than 90% of people meeting the diagnostic criteria.
What kind of Doctor do you see for Proteus syndrome?
Each person with Proteus syndrome will have different medical needs that require individualized treatment. Many patients with Proteus syndrome are followed by several specialists such as a geneticist, a pediatrician, a dermatologist, and others. [2]