What condition did the elephant man have?


What condition did the elephant man have?

Background: In 1986, two Canadian geneticists had demonstrated that Joseph Merrick, better known as the Elephant Man, suffered from the Proteus syndrome and not from neurofibromatosis type 1 (NF1), as was alleged by dermatologist Parkes in 1909.

Did The Elephant Man have elephantiasis?

Initially considered to be the result of elephantiasis, the disorder is now thought to be either an extremely severe case of neurofibromatosis and/or the result of a disease known as Proteus syndrome. The life of Merrick has also been the subject of various artistic interpretations as well.

What caused the elephant man’s deformity?

As he grew, a noticeable difference between the size of his left and right arms appeared and both his feet became significantly enlarged. The Merrick family explained his symptoms as the result of Mary’s being knocked over and frightened by a fairground elephant while she was pregnant with Joseph.

Did The Elephant Man have cloves syndrome?

Experts think Joseph Merrick, the “Elephant Man,” had an extreme case of Proteus syndrome. CLOVES is not inherited. Instead, after the egg and sperm form an embryo, a glitch causes a mistake in a single cell or a few cells as the embryo starts to divide.

What is the treatment for Proteus syndrome?

Treatment may include surgery and physical therapy. Your child will also be monitored for blood clots. The condition can affect quality of life, but people with Proteus syndrome can age normally with medical intervention and monitoring.

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.

What’s wrong with Elephant Man?

The disorder from which Merrick suffered was long thought to be an extremely severe case of neurofibromatosis, but his deformities were probably the result of an extremely rare disease known as Proteus syndrome.

How do you 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.

Is Proteus syndrome curable?

Most people with Proteus syndrome have a variant seen in the AKT1 gene in some, but not all cells of the body. There is no cure or specific treatment for Proteus syndrome and treatment involves medical and surgical management of symptoms.

How is Proteus syndrome treated?

What causes Proteus syndrome?

Causes of Proteus syndrome. Proteus syndrome occurs during fetal development. It’s caused by what experts call a mutation, or permanent alteration, of the gene AKT1. The AKT1 gene helps regulate growth.

What are the symptoms of Proteus syndrome?

Symptoms of Proteus syndrome. Symptoms tend to vary greatly from one person to another and can include: 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.

Is there any natural treatment for Proteus syndrome?

The treatment for Proteus syndrome is primarily targeted towards managing the symptoms and preventing complications from happening. This may involve physical and psychotherapy and sometimes, surgery. The chances of recovery significantly differ from person to person based on the severity of the syndrome.

What is the history of Proteus syndrome?

Proteus syndrome affects males slightly more often than females. It was first reported in the medical literature in 1979. Researchers now believe that Joseph Merrick, whose life was the subject of the movie The Elephant Man, had Proteus syndrome and not neurofibromatosis, as previously thought.