An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred. Pediatric Dermatology 2012, 29: 725-731. PMID: 22515571, PMCID: PMC3709244, DOI: 10.1111/j.1525-1470.2012.01757.x.Peer-Reviewed Original ResearchMeSH KeywordsCollagen Type VIIEpidermolysis BullosaEpidermolysis Bullosa DystrophicaFamily HealthFemaleGenes, DominantHumansMaleMutation, MissensePedigreePenetrancePhenotypeSkinYoung AdultConceptsEpidermolysis bullosa pruriginosaDystrophic epidermolysis bullosaIntense pruritusEpidermolysis bullosaSimilar skin lesionsProband's younger brotherAnchoring fibril proteinKnown triggersClinical presentationLichenoid lesionsRare subtypeDermal-epidermal junctionYounger brotherBlistering diseaseCaucasian womenLichenoid papulesDorsal handSkin lesionsPruritic papulesAge 47Extensor extremitiesClinical phenotypeLinear scarringPruritusFibril protein