What caused the elephant Mans 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.
What disorder did Joseph Merrick have?
At last, in 1986, Canadian geneticists Tibbles and Cohen demonstrated that Merrick was actually afflicted with Proteus syndrome [7]. A man who suffered from Proteus syndrome (Joseph Merrick, the “elephant man”).
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 is Elephant disease?
Lymphatic filariasis, commonly known as elephantiasis, is a painful and profoundly disfiguring disease. It is caused by infection with parasites classified as nematodes (roundworms) of the family Filariodidea that are transmitted through the bites of infected mosquitos.
Is Proteus syndrome the same as elephantiasis?
Genital elephantiasis, result of lymphogranuloma venereum. Proteus syndrome, a genetic disorder best known as the condition possibly experienced by Joseph Merrick, the so-called “Elephant Man.”
Who gets Proteus syndrome?
Affected Populations Proteus syndrome is an extremely rare disorder. Approximately 200 patients have been reported in the medical literature and it seems to affect people of all ethnic and racial groups.
Is Proteus syndrome from birth?
It is not present at birth and is made up of thickened, abnormally firm subcutaneous tissue. The skin may develop deep grooves or furrows. Malformations of various blood vessels (vascular malformations) are common in Proteus syndrome. The capillaries, veins, and lymph vessels can be affected.
Is elephantiasis permanent?
The painful and profoundly disfiguring visible manifestations of the disease, lymphoedema, elephantiasis and scrotal swelling occur later in life and can lead to permanent disability.
Is elephantiasis hereditary?
Symptoms include swelling of affected areas (lymphedema) and thickening and hardening of the skin in affected areas. In most cases, hereditary lymphedema is inherited as an autosomal dominant trait. (For more information on this disorder, choose “hereditary lymphedema” as your search term in the Rare Disease Database).
Is there a cure or treatment for Proteus syndrome?
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.
What is elephantitis disease?
It affects the arms, legs and the male and female genitals most commonly. Medically termed as elephantiasis or lymphatic filariasis, it is usually misspelt as elephantitis. Elephantitis or elephantiasis disease in males is characterized by the inflammation of the scrotum or the testicles to the size of a softball or even as big as a basketball.
What is elephantiasis and how is it treated?
Can you treat elephantiasis? Elephantiasis is a tropical disease caused by parasitic worms that are spread through mosquito bites. The skin gets thick and hard, resembling an elephant’s skin.
Did the “Elephant Man” have neurofibromatosis?
This puzzled us, because the identification of neurofibromatosis with the condition from which Joseph Merrick, the so called “elephant man”, suffered does not correspond to current medical knowledge. For many years, it was thought that Joseph Merrick, widely known as the “elephant man” (Figure 1), suffered from NF1 [1], [2], [3], [4], [5], [6].
Who is at risk of elephantiasis?
Elephantiasis can affect people at any age. It appears in both women and men. It’s more common in tropical and subtropical parts of the world, such as: Common risk factors for elephantiasis include: