lethal acantholytic epidermolysis bullosa
Findings
No curated finding names lethal acantholytic epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
Definition from the Mondo Disease Ontology (MONDO:0012323), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- Absent fingernailHPOHP:0001817
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- AcantholysisHPOHP:0100792
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Alopecia totalisHPOHP:0007418
- 1 of 1 reported patient
- Alopecia universalisHPOHP:0002289
- 3 of 3 reported patients
- AnonychiaHPOHP:0001798
- 1 of 1 reported patient
Show the remaining 26
- Widely spaced toesHPOHP:0008094
- 1 of 1 reported patient
- Abnormal dermoepidermal hemidesmosome morphologyHPOHP:0032449
- Frequent (30% to 79% of cases)
- Abnormal dermoepidermal junction morphologyHPOHP:0031538
- Frequent (30% to 79% of cases)
- Absent eyebrowHPOHP:0002223
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- Frequent (30% to 79% of cases)
- Absent hairHPOHP:0002298
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DSPHGNC:3052
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- JUPHGNC:6207
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: lethal acantholytic epidermolysis bullosa
- Also called
- LAEB