2022
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders
Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.Peer-Reviewed Original ResearchConceptsInflammatory linear verrucous epidermal nevusVerrucous epidermal nevusEpidermal nevusCARD14 mutationsHotspot mutationsLinear verrucous epidermal nevusPathogenesis-directed therapyCohort of patientsErythematous scaly plaquesRare skin diseaseLines of BlaschkoSomatic pathogenic variantsNSDHL mutationsHistopathological evaluationInflammatory disordersScaly plaquesHistopathologic evaluationHistopathological criteriaLinear porokeratosisSkin lesionsAffected skinPatientsSkin diseasesClinical descriptorsHeterogenous group
2016
Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
Eskin-Schwartz M, Basel-Vanagaite L, David M, Lagovsky I, Ben-Amitai D, Smirin-Yosef P, Atzmony L, Hodak E. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis. Acta Dermato Venereologica 2016, 96: 885-887. PMID: 26984337, DOI: 10.2340/00015555-2405.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesCARD Signaling Adaptor ProteinsChildChild, PreschoolFemaleHumansInfantInterleukin 1 Receptor Antagonist ProteinInterleukinsJewsMaleMutationPhenotypePolymorphism, Single NucleotidePsoriasisConceptsIntra-familial variationClinical phenotypeDisease onsetHLA-C*0602Multifactorial chronic inflammatory diseaseVariability of clinical presentationTime of disease onsetEarly disease onsetChronic inflammatory diseaseAffected family membersCARD14 geneClinical presentationCoding region polymorphismsActivating mutationsSeverely affected individualsPsoriatic phenotypePustular typesInflammatory diseasesPsoriasisCARD14Region polymorphismsDisease expressionCo-segregationDiseaseOnset