Crandall syndrome
Crandall Syndrome
Crandall Syndrome (pronounced: kran-dall sin-drome), also known as Congenital Ichthyosiform Erythroderma (CIE), is a rare genetic disorder characterized by severe skin abnormalities and hearing loss. The syndrome is named after the American physician, Dr. Richard P. Crandall, who first described the condition in 1973.
Etymology
The term "Crandall Syndrome" is derived from the name of the physician who first identified the condition. The word "syndrome" comes from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
Crandall Syndrome is characterized by two main symptoms: Ichthyosis and Sensorineural hearing loss.
- Ichthyosis: This is a skin condition that causes the skin to become dry, thick, and scaly. In Crandall Syndrome, the ichthyosis is present from birth and is often severe.
- Sensorineural hearing loss: This is a type of hearing loss that occurs due to damage to the inner ear or the nerve pathways from the inner ear to the brain. In Crandall Syndrome, the hearing loss is typically profound and present from birth.
Causes
Crandall Syndrome is caused by mutations in the TGM1 gene. This gene provides instructions for making an enzyme that is essential for the formation of the skin's outermost layer. Mutations in the TGM1 gene disrupt the normal development of this layer, leading to the skin abnormalities seen in Crandall Syndrome.
Diagnosis
Diagnosis of Crandall Syndrome is based on the presence of the characteristic symptoms of ichthyosis and sensorineural hearing loss. Genetic testing can confirm the diagnosis by identifying mutations in the TGM1 gene.
Treatment
There is currently no cure for Crandall Syndrome. Treatment is aimed at managing the symptoms and may include skin moisturizers and hearing aids.
See Also
External links
- Medical encyclopedia article on Crandall syndrome
- Wikipedia's article - Crandall syndrome
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