epidermolysis bullosa simplex 2F, with mottled pigmentation
Findings
No curated finding names epidermolysis bullosa simplex 2F, with mottled pigmentation 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 with mottled or reticulate brown pigmentation.
Definition from the Mondo Disease Ontology (MONDO:0007556), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplastic fifth toenailHPOHP:0011937
- 2 of 2 reported patients
- Intra-epidermal blisteringHPOHP:0033802
- 12 of 12 reported patients
- Lamina lucida cleavageHPOHP:0003341
- Very frequent (80% to 99% of cases)
- Mixed hypo- and hyperpigmentation of the skinHPOHP:0009123
- Very frequent (80% to 99% of cases)
- Mottled pigmentationHPOHP:0001070
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Palmar hyperkeratosisHPOHP:0010765
- Frequent (30% to 79% of cases)
- Plantar hyperkeratosisHPOHP:0007556
- Frequent (30% to 79% of cases)
- Spotty hypopigmentationHPOHP:0005590
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% 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.
Where it sits
- A kind of
Other names
2 names
Resolves to: epidermolysis bullosa simplex 2F, with mottled pigmentation
- Also called
- EBS-MPepidermolysis bullosa simplex with mottled pigmentation