Skin fragility syndrome
Skin Fragility Syndrome
Skin Fragility Syndrome (pronunciation: /skɪn frædʒɪlɪti sɪndroʊm/), also known as Epidermolysis Bullosa Simplex, is a rare genetic disorder characterized by the skin's susceptibility to damage and inability to resist mechanical stress.
Etymology
The term "Skin Fragility Syndrome" is derived from the English words "skin", referring to the body's outer covering, "fragility", meaning easily broken or damaged, and "syndrome", a term used in medicine to describe a collection of symptoms that consistently occur together.
Symptoms
The primary symptom of Skin Fragility Syndrome is the skin's increased susceptibility to damage. Minor trauma or friction, such as rubbing or scratching, can cause the skin to blister or tear. Other symptoms may include milia (small white bumps), nail dystrophy (abnormal nail growth), and hyperkeratosis (thickening of the skin).
Causes
Skin Fragility Syndrome is caused by mutations in the KRT5 or KRT14 genes. These genes provide instructions for making proteins that are essential for the normal formation of skin cells. Mutations in these genes disrupt the normal formation of skin cells, leading to the symptoms of Skin Fragility Syndrome.
Diagnosis
Diagnosis of Skin Fragility Syndrome is based on the patient's symptoms and medical history. A physical examination and laboratory tests, including genetic testing, may also be performed.
Treatment
There is currently no cure for Skin Fragility Syndrome. Treatment is focused on managing the symptoms and preventing skin damage. This may include the use of protective bandages, moisturizers, and in some cases, surgery.
Related Terms
External links
- Medical encyclopedia article on Skin fragility syndrome
- Wikipedia's article - Skin fragility syndrome
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