Visualize Submit Comment

Metadata
ID	DOID:0080988
Name	pretibial dystrophic epidermolysis bullosa
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/
Xrefs	GARD:2155 MIM:131850 ORDO:79410
Subsets	DO_rare_slim
Parent Relationships	is_a epidermolysis bullosa dystrophica