Overview
Localised junctional epidermolysis bullosa is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Fragile skin
Very frequent (80-99%)HP:0001030
Skin bullae
Very frequent (80-99%)HP:0008066
Abnormality of dental color
Frequent (30-79%)HP:0011073
Acral blistering
Frequent (30-79%)HP:0031045
Atrophic, patchy alopecia
Frequent (30-79%)HP:0004529
Decreased sexual hair
Frequent (30-79%)HP:0002225
Defective enamel matrix
Frequent (30-79%)HP:0006297
Dystrophic nails
Frequent (30-79%)HP:0008404
Epidermal detachment
Frequent (30-79%)HP:0032156
Pitting of tooth enamel
Frequent (30-79%)HP:0009722
Sparse scalp, axillary, and pubic hair
Frequent (30-79%)HP:0002215
Aplasia cutis congenita
Occasional (5-29%)HP:0001057
Dystrophic fingernails
Occasional (5-29%)HP:0008391
Dystrophic toenails
Occasional (5-29%)HP:0001810
Hair loss on scalp from scarring condition
Occasional (5-29%)HP:0004552
Atypical scarring
Very rare (1-4%)HP:0000987
Limb joint contracture
Very rare (1-4%)HP:0003121
Milia
Very rare (1-4%)HP:0001056
Mitten deformity
Very rare (1-4%)HP:0004057
Quick Facts
- SNOMED CT
- 254191009
- UMLS CUI
- C0474889
- Fully Specified Name
- Localized junctional epidermolysis bullosa (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.