pretibial dystrophic epidermolysis bullosa

Term ID

DOID:0080988

Synonyms

Definition

An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. https://pubmed.ncbi.nlm.nih.gov/7738360/

References

• GARD:2155
• MIM:131850
• ORDO:79410

Ontology

Human Disease   ( DOID:0080988 )