Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- Synonyms
- Epidermolysis bullosa simplex due to BP230 deficiency; Epidermolysis bullosa simplex, autosomal recessive 2
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
28 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (28 available)
Clinical features
Help- Abnormality of limbs
- Palmoplantar keratosis
Palmoplantar keratosis
- MedGen UID: 44017
- Concept ID: C0022596
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmoplantar keratosis
- Abnormality of the integument
- Abnormal blistering of the skin
Abnormal blistering of the skin
- MedGen UID: 412159
- Concept ID: C2132198
- Finding: Finding
Abnormality of the integument
- Abnormal dermoepidermal hemidesmosome morphology
Abnormal dermoepidermal hemidesmosome morphology
- MedGen UID: 1686623
- Concept ID: C5139350
- Finding: Finding
Abnormality of the integument
- Atrophic scars
Atrophic scars
- MedGen UID: 57875
- Concept ID: C0162154
- Finding: Pathologic Function
Abnormality of the integument
- Dystrophic toenail
Dystrophic toenail
- MedGen UID: 318813
- Concept ID: C1833225
- Finding: Finding
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Abnormal blistering of the skin
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