Bart syndrome
Bart syndrome
Bart syndrome (pronounced: /bɑːrt/), also known as Epidermolysis Bullosa Simplex with Congenital Localized Absence of Skin and Deafness, is a rare genetic disorder characterized by the presence of blistering skin lesions at birth. The term "Bart syndrome" is derived from the initials of the three main features of the disorder: Blistering, Aplasia cutis congenita, and Radial Transverse limb defects.
Symptoms
The primary symptom of Bart syndrome is the presence of blisters on the skin at birth. These blisters can be localized or widespread and are often accompanied by aplasia cutis congenita, a condition where there is an absence of skin at birth. Some individuals with Bart syndrome may also have radial ray deficiency, a condition that affects the development of the bones in the arms and hands.
Causes
Bart syndrome is caused by mutations in the KRT5 or KRT14 genes. These genes provide instructions for making proteins that are essential for the normal development of the skin. Mutations in these genes disrupt the normal development of the skin, leading to the characteristic features of Bart syndrome.
Diagnosis
Diagnosis of Bart syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the KRT5 or KRT14 genes.
Treatment
There is currently no cure for Bart syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include wound care to prevent infection and physical therapy to improve mobility.
See also
External links
- Medical encyclopedia article on Bart syndrome
- Wikipedia's article - Bart syndrome
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