Lethal acantholytic epidermolysis bullosa
MeSH: C535493ORPHA: 158687
Overview
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Lethal acantholytic epidermolysis bullosa, sourced from HPO and Orphanet clinical annotations.
Absent eyelashesNatal toothFragile skinAbsent toenailAbsent fingernailAbsent eyebrowAbsent hairRespiratory failureCongenital alopecia totalisHypovolemic shockAbnormal dermoepidermal junction morphologyAbnormal dermoepidermal hemidesmosome morphologyAcantholysisCleft palateAbnormal pinna morphologyAbnormality of the skeletal system2-3 finger cutaneous syndactylyIntrauterine growth retardationOligohydramniosCardiomyopathyCardiomegalyCamptodactyly of toeClinodactyly of the 5th finger3-4 finger osseus syndactylyImpaired myocardial contractility4-5 finger cutaneous syndactylyAbnormal helix morphology
Classification & Codes
MeSH Code
C535493Orphanet Code
ORPHA:158687Lethal acantholytic epidermolysis bullosa
| MeSH | C535493 |
| Orphanet | ORPHA:158687 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO