Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cleavage within the basal keratinocyte layer
Always present (100%)HP:0034193
Blister
Very frequent (80-99%)HP:0008066
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 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
Skin erosion
Occasional (5-29%)HP:0200041
Sweating
Occasional (5-29%)HP:0000975
Bullae of oral mucosa
Very rare (1-4%)HP:0200097
Dystrophic nails
Very rare (1-4%)HP:0008404
Milia
Very rare (1-4%)HP:0001056
Red-blue papule
Very rare (1-4%)HP:0030350
Thin, atrophic scars
Very rare (1-4%)HP:0001075
Epidermal hyperkeratosis
Excluded (<1%)HP:0000962
Related Conditions
Quick Facts
- SNOMED CT
- 294705005
- UMLS CUI
- C0080333
- Fully Specified Name
- Dominant epidermolysis bullosa simplex, Weber-Cockayne type (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.