Research Evidence
Peer-reviewed studies linked via MeSH term "Epidermolysis Bullosa Simplex" from the MEDLINE/PubMed database.
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Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2025
Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review.
[object Object], [object Object], [object Object] et al. · Pediatr Dermatol · 2019
PMID: 31177584Meta-Analysis
Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial.
[object Object], [object Object], [object Object] et al. · J Drugs Dermatol · 2023
PMID: 37276163RCT
Randomized, split-body, single-blinded clinical trial of topical broccoli sprout extract: Assessing the feasibility of its use in keratin-based disorders.
[object Object], [object Object], [object Object] et al. · J Am Acad Dermatol · 2017
A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.
[object Object], [object Object], [object Object] et al. · J Cosmet Laser Ther · 2016
PMID: 27249461RCT
Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2013
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
[object Object], [object Object], [object Object] et al. · BMC Pediatr · 2024
Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2024
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.
[object Object], [object Object], [object Object] et al. · Curr Opin Cell Biol · 2023
PMID: 37925932Review
Eye Involvement and Management in Inherited Epidermolysis Bullosa.
[object Object], [object Object], [object Object] et al. · Drugs · 2022
PMID: 36074321Review
Search all PubMed articles for Epidermolysis bullosa simplex
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cleavage within the basal keratinocyte layer
Always present (100%)HP:0034193
Foot pain
Very frequent (80-99%)HP:0025238
Hyperkeratosis, palmoplantar, focal friction-related
Very frequent (80-99%)HP:0007497
Junctional split
Very frequent (80-99%)HP:0003341
Palmoplantar blistering
Very frequent (80-99%)HP:0007446
Skin bullae
Very frequent (80-99%)HP:0008066
Skin fragility with non-scarring blistering
Very frequent (80-99%)HP:0007585
Skin itching
Very frequent (80-99%)HP:0000989
Acute episodes of neuropathic symptoms
Frequent (30-79%)HP:0003489
Intolerance to heat and fevers
Frequent (30-79%)HP:0002046
Paresthesia
Frequent (30-79%)HP:0003401
Skin plaque
Frequent (30-79%)HP:0200035
Upper limb pain
Frequent (30-79%)HP:0012513
Erosion of oral mucosa
Occasional (5-29%)HP:0031446
Palmar hyperkeratosis
Occasional (5-29%)HP:0010765
Plantar hyperkeratosis
Occasional (5-29%)HP:0007556
Profuse sweating
Occasional (5-29%)HP:0000975
Skin erosion
Occasional (5-29%)HP:0200041
Bullae of oral mucosa
Very rare (1-4%)HP:0200097
Dystrophic nails
Very rare (1-4%)HP:0008404
Erythematous papule
Very rare (1-4%)HP:0030350
Milia
Very rare (1-4%)HP:0001056
Thin, atrophic scars
Very rare (1-4%)HP:0001075
Epidermal hyperkeratosis
Excluded (<1%)HP:0000962
Related Conditions
Epidermolysis bullosa simplex with hypodontia(child)
Dowling-Meara epidermolysis bullosa(child)
Epidermolysis bullosa simplex with mottled pigmentation(child)
Epidermolysis simplex superficialis(child)
Generalized epidermolysis bullosa simplex(child)
Autosomal dominant epidermolysis bullosa simplex(child)
Basal epidermolysis bullosa simplex(child)
Suprabasal epidermolysis bullosa simplex(child)
Autosomal recessive epidermolysis bullosa simplex(child)
Epidermolysis bullosa(parent)
Quick Facts
- SNOMED CT
- 67144006
- UMLS CUI
- C0079298
- Fully Specified Name
- Epidermolysis bullosa simplex (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.