2015
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease
Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal Of Cutaneous Pathology 2015, 42: 853-857. PMID: 26154588, PMCID: PMC4843784, DOI: 10.1111/cup.12551.Peer-Reviewed Original ResearchConceptsPapular acantholytic dyskeratosisAcantholytic dyskeratosisATP2A2 mutationsDarier's diseasePeripheral blood DNAUncommon eruptionVulvocrural areaAcantholytic dermatosisPeripheral bloodUninvolved skinAnogenital areaHistological similaritiesPruritic papulesDyskeratosisNormal tissuesBlood DNAGenetic causeLesionsChestDiseaseWomenSomatic mosaicismMutations
2012
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 ResearchConceptsEpidermolysis 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