Skin fragility syndrome

Skin Fragility Syndrome
Synonyms	Epidermolysis Bullosa Simplex, Dermatolysis, etc.
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Skin Fragility Syndrome (SFS) encompasses a group of rare genetic disorders that result in easy blistering of the skin and mucous membranes in response to minor trauma or friction. The conditions are generally classified based on the specific layer of skin affected and can range in severity from mild to life-threatening. The most common types include Epidermolysis Bullosa Simplex (EBS), Dystrophic Epidermolysis Bullosa (DEB), Junctional Epidermolysis Bullosa (JEB), and Kindler Syndrome.

Causes

Skin Fragility Syndrome is primarily caused by genetic mutations that affect the proteins necessary for the integrity and stability of skin structure. These proteins include keratins (in EBS), collagen (in DEB), and laminins (in JEB). The mutations can be inherited in an autosomal dominant or recessive manner, depending on the type of SFS.

Symptoms

The hallmark symptom of SFS is the formation of blisters and sores on the skin and mucous membranes due to minor mechanical trauma. Other symptoms may include:

• Nail dystrophy or loss
• Scarring
• Mucosal involvement leading to dietary and respiratory issues
• In severe cases, systemic involvement such as growth retardation and anemia

Diagnosis

Diagnosis of SFS is based on:

• Clinical examination
• Family history
• Skin biopsy for histological examination
• Genetic testing to identify specific mutations

Treatment

There is currently no cure for Skin Fragility Syndrome. Treatment focuses on managing symptoms and preventing complications. This may include:

• Wound care and infection prevention
• Pain management
• Nutritional support
• Physical and occupational therapy
• Use of protective bandages and clothing to minimize trauma
• Surgical interventions for severe complications

Prognosis

The prognosis for individuals with SFS varies widely depending on the type and severity of the disorder. While some individuals may lead relatively normal lives with minor adjustments, others may suffer from severe and disabling complications.

See also

• Dermatology
• Genetic disorder
• Wound healing

External links

• Dystrophic Epidermolysis Bullosa Research Association (DEBRA)
• National Institute of Arthritis and Musculoskeletal and Skin Diseases - Epidermolysis Bullosa

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Skin fragility syndrome

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  Diagram showing autosomal recessive inheritance pattern