Epidermolysis bullosa simplex

Hands EBS

Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS) is a genetic disorder characterized by the formation of blisters at the dermoepidermal junction. This condition arises due to mutations in the genes encoding for keratin 5 or keratin 14, critical proteins responsible for skin integrity. Often referred to as epidermolytic, EBS is one of several types of epidermolysis bullosa, each differing in its genetic cause and phenotypic expression.

Cause

The primary cause of EBS is the:

• Absence of Keratin-5 and Keratin-14: These proteins are vital for maintaining the structural integrity of the skin. Due to mutations in their corresponding genes, affected individuals lack these keratins from birth, leading to the skin's vulnerability to minor mechanical stresses.

Pathophysiology

Blister formation in EBS occurs at the point where the epidermis meets the dermis, known as the dermoepidermal junction. As a result of the defective or missing keratin proteins:

• Reduced Skin Stability: The skin layers fail to adhere properly, leading to increased susceptibility to blistering.
• Blisters: These can arise from minor trauma or friction, and they may be painful and pose a risk of secondary infection.

Diagnosis

The diagnosis of EBS typically involves:

• Clinical Examination: Presence of blisters, especially in infancy, may hint towards EBS.
• Genetic Testing: Confirmation of the disease can be achieved by identifying mutations in the genes encoding keratin 5 or keratin 14.
• Skin Biopsy: Examining a small tissue sample under the microscope can reveal abnormalities consistent with EBS.

Classification

Epidermolysis bullosa, as a group of disorders, is classified based on the location of blister formation, genetic cause, and clinical presentation. While EBS involves the dermoepidermal junction, other types may have blisters forming deeper within the skin or have different clinical features. Understanding this classification can aid in treatment decisions and prognostic predictions.

See Also

• Keratin
• Dermoepidermal junction
• Genetic disorders
• Skin biopsy
• Epidermolysis bullosa

Further reading

• GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex

External links

Classification	ICD-10: Q81.0 OMIM: 131900 MeSH: D016110 DiseasesDB: 4334
External resources	eMedicine: derm/124 Orphanet: 304

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