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EDA-ID

Anhidrotic Ectodermal Dysplasia with Immune Deficiency (EDA-ID)

is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood. EDA-ID is normally diagnosed at birth.

Madisyn Wall

There are two forms of EDA-ID that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.

The Effects of EDA-ID

X-Linked Recessive - When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of the IKBKG gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Treatment for EDA-ID

A reduction in antibodies makes it difficult for children with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.

Children with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.

Children with EDA-ID often have skin abnormalities that include areas of the skin that may be dry, wrinkled, and darker than surrounding skin. They may have hypodontia or teeth that are small and pointed. Also children with EDA-ID have a reduced ability to sweat (hypohidrosis.) The immune deficiency (ID) in EDA-ID varies among individuals. Children often produce abnormally low levels of proteins called antibodies or immunoglobulins which help to protect the body against infection by attaching to specific foreign particles.

Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).

Works Cited

https://ghr.nlm.nih.gov/condition/anhidrotic ectodermal-dysplasia-with-immune-deficiency#statistics

https://en.wikipedia.org/wiki/Michael_Berryman

Autosomal Dominant - one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Michael Berryman is a famous American actor who suffers from EDA-ID. As a result of his condition, his unusual physical appearance has allowed Berryman to make a career out of portraying characters in horror movies and B movies. His most prominent roles were in the movies One Flew over the Cuckoo's Nest in 1975 and The Hills Have Eyes in 1977. His time on set for The Hills Have Eyes proved difficult for him, since during the 4-month shoot, temperatures in the desert routinely surpassed 100 degrees, and without sweat glands, he had to take special precautions in order to avoid suffering heat stroke.

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