Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cleavage within the basal keratinocyte layer
Always present (100%)HP:0034193
Hoarse cry
Always present (100%)HP:0001615
Blister
Very frequent (80-99%)HP:0008066
Dystrophic nails
Very frequent (80-99%)HP:0008404
Erythema
Very frequent (80-99%)HP:0010783
Fragile skin
Very frequent (80-99%)HP:0001030
Generalized abnormality of skin
Very frequent (80-99%)HP:0011354
Keratoderma
Very frequent (80-99%)HP:0000982
Tonofilament clumping
Very frequent (80-99%)HP:0034067
Aplasia cutis congenita
Frequent (30-79%)HP:0001057
Aplasia cutis congenita on trunk or limbs
Frequent (30-79%)HP:0007589
Bullae of oral mucosa
Frequent (30-79%)HP:0200097
Enamel, underdeveloped
Frequent (30-79%)HP:0006297
Feeding difficulties
Frequent (30-79%)HP:0011968
Gastrostomy tube feeding in infancy
Frequent (30-79%)HP:0011471
Generalized reticulate brown pigmentation
Frequent (30-79%)HP:0007599
Hair loss
Frequent (30-79%)HP:0001596
Low number of red blood cells or hemoglobin
Frequent (30-79%)HP:0001903
Milia
Frequent (30-79%)HP:0001056
Patchy darkened skin
Frequent (30-79%)HP:0000953
Poor growth
Frequent (30-79%)HP:0001510
Scar tissue
Frequent (30-79%)HP:0100699
Skin infections, recurrent
Frequent (30-79%)HP:0001581
Thin, atrophic scars
Frequent (30-79%)HP:0001075
Abnormality of the epiglottis
Occasional (5-29%)HP:0005483
Atrophy of dorsum of tongue
Occasional (5-29%)HP:0010298
Bronchomalacia
Occasional (5-29%)HP:0002780
Congenital nystagmus
Occasional (5-29%)HP:0006934
Craniosyostosis
Occasional (5-29%)HP:0001363
Decreased circulating immunoglobulin concentration
Occasional (5-29%)HP:0004313
Related Conditions
Quick Facts
- SNOMED CT
- 254179000
- UMLS CUI
- C0079295
- Fully Specified Name
- Epidermolysis bullosa simplex herpetiformis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.