Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal blistering of the skin
Very frequent (80-99%)HP:0008066
Localised skin lesion
Very frequent (80-99%)HP:0011355
Pretibial blistering
Very frequent (80-99%)HP:0012221
Abnormal toenail morphology
Frequent (30-79%)HP:0008388
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Anonychia
Frequent (30-79%)HP:0001798
Atypical scarring
Frequent (30-79%)HP:0000987
Dystrophic nails
Frequent (30-79%)HP:0008404
Fragile skin
Frequent (30-79%)HP:0001030
Keloids
Frequent (30-79%)HP:0010562
Milia
Frequent (30-79%)HP:0001056
Palmoplantar blistering
Frequent (30-79%)HP:0007446
Skin itching
Frequent (30-79%)HP:0000989
Thin, atrophic scars
Frequent (30-79%)HP:0001075
Abnormal eye
Occasional (5-29%)HP:0000478
Bullae of oral mucosa
Occasional (5-29%)HP:0200097
Dental cavities
Occasional (5-29%)HP:0000670
Erythematous papule
Occasional (5-29%)HP:0030350
Hyperkeratotic papule
Occasional (5-29%)HP:0045059
Mitten deformity
Occasional (5-29%)HP:0004057
Skin erosion
Occasional (5-29%)HP:0200041
Skin vesicle
Occasional (5-29%)HP:0200037
Small nail
Occasional (5-29%)HP:0001792
Epidermal hyperkeratosis
HP:0000962
Related Conditions
Quick Facts
- SNOMED CT
- 67653003
- UMLS CUI
- C0432321
- Fully Specified Name
- Pretibial epidermolysis bullosa (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.