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GTR Home > Conditions/Phenotypes > Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

Summary

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jodi Y So
Joyce Teng
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Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F, K5, KRT5A, KRT5
    Summary: keratin 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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