junctional epidermolysis bullosa Herlitz type
Findings
No curated finding names junctional epidermolysis bullosa Herlitz type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Definition from the Mondo Disease Ontology (MONDO:0009182), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
63 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
- Very frequent (80% to 99% of cases)
- Lamina lucida cleavageHPOHP:0003341
- 1 of 1 reported patient
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Abnormal oral mucosa morphologyHPOHP:0011830
- Very frequent (80% to 99% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
Show the remaining 51
- Abnormal fingertip morphologyHPOHP:0001211
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Erosion of oral mucosaHPOHP:0031446
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- Frequent (30% to 79% of cases)
Genes
3 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.
- LAMB3HGNC:6490
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- LAMA3HGNC:6483
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- LAMC2HGNC:6493
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
8 names
Resolves to: junctional epidermolysis bullosa Herlitz type
- Also called
- epidermolysis bullosa letalisHerlitz-Pearson-type epidermolysis bullosaJEB-HJEB-Herlitz typeJEB, generalised severeJEB, generalized severejunctional epidermolysis bullosa generalisata gravisjunctional epidermolysis bullosa, Herlitz-Pearson type