2018
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. Journal Of The American Academy Of Dermatology 2018, 79: 487-494. PMID: 29477734, PMCID: PMC6098739, DOI: 10.1016/j.jaad.2018.02.034.Peer-Reviewed Original ResearchConceptsPityriasis rubra pilarisPapulosquamous eruptionPsoriasis therapyFamily historyCARD14 mutationsRegistry of subjectsFeatures of psoriasisSystemic psoriasis therapiesSpectrum of diseaseDisorders of keratinizationWhole-exome sequencingOral retinoidsClinical characteristicsClinical featuresClinical historyTumor necrosisDiagnostic uncertaintyFamilial pityriasis rubra pilarisProminent involvementPsoriasisGenetic testingHeterozygous mutationsExome sequencingMinimal responseSmall sample size
2013
Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Koochek A, Choate KA, Milstone LM. Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation. Pediatric Dermatology 2013, 31: e63-e64. PMID: 24274932, DOI: 10.1111/pde.12263.Peer-Reviewed Original Research
2011
A Large Mutational Study in Pachyonychia Congenita
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. A Large Mutational Study in Pachyonychia Congenita. Journal Of Investigative Dermatology 2011, 131: 1018-1024. PMID: 21326300, DOI: 10.1038/jid.2011.20.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaFrame insertion/deletion mutationsPainful palmoplantar keratodermaAdditional clinical featuresHeterozygous splice site mutationClinical featuresFollicular keratosisRare autosomal dominant skin disorderOral leukokeratosisNail dystrophyAutosomal dominant skin disorderSkin disordersHeterozygous missenseClinical diagnosisHeterozygous mutationsDominant skin disorderHotspot codonsPalmoplantar keratodermaKRT6AKRT16KRT17Splice site mutationKRT6BCongenitaPersonalized medicine