epidermolysis bullosa simplex 5B, with muscular dystrophy
Findings
No curated finding names epidermolysis bullosa simplex 5B, with muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0009181), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 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
- 6 of 6 reported patients · Neonatal onset
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Intra-epidermal blisteringHPOHP:0033802
- 4 of 4 reported patients
- Motheaten muscle fibersHPOHP:0100298
- 1 of 1 reported patient
- Muscle fiber splittingHPOHP:0003555
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 6 of 6 reported patients · Childhood onset
- Alopecia
Show the remaining 13
- MutismHPOHP:0002300
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Oculomotor nerve palsyHPOHP:0012246
- Very frequent (80% to 99% of cases)
- OphthalmoparesisHPOHP:0000597
- Very frequent (80% to 99% of cases)
- OphthalmoplegiaHPOHP:0000602
- Very frequent (80% to 99% of cases)
- Skin vesicleHPOHP:0200037
- Very frequent (80% to 99% of cases)
Genes
1 gene
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.
- PLECHGNC:9069
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: epidermolysis bullosa simplex 5B, with muscular dystrophy
- Also called
- EBS-MDepidermolysis bullosa simplex and limb-girdle muscular dystrophyepidermolysis bullosa simplex with muscular dystrophylimb-girdle muscular dystrophy with epidermolysis bullosa simplex