2018
Mutations in PERP Cause Dominant and Recessive Keratoderma
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Mutations in PERP Cause Dominant and Recessive Keratoderma. Journal Of Investigative Dermatology 2018, 139: 380-390. PMID: 30321533, PMCID: PMC6586468, DOI: 10.1016/j.jid.2018.08.026.Peer-Reviewed Original ResearchConceptsC-terminal truncationsIntercellular adhesionEpidermal biologyEpidermal differentiation markersEpidermal homeostasisDesmosomal componentsDesmosomal proteinsGenetic determinantsDifferentiation markersEssential roleMutationsUnrelated kindredsDesmosomesProteinPERPOlmsted syndromePalmoplantar keratodermaGenesCrucial componentHeterozygosityBiologyHomeostasisKeratinization disordersKeratodermaHomozygosity
2016
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin
Marukian NV, Levinsohn JL, Craiglow BG, Milstone LM, Choate KA. Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. Pediatric Dermatology 2016, 34: 160-162. PMID: 28008647, DOI: 10.1111/pde.13057.Peer-Reviewed Original ResearchConceptsCostello syndromePalmoplantar keratodermaCoarse facial featuresMultisystem congenital disorderSevere palmoplantar keratodermaDermatologic findingsAcanthosis nigricansKeratosis pilarisSystemic administrationSevere casesCardiac defectsCutaneous papillomasSkin redundancyCongenital disorderIntellectual disabilityAcitretinFunctional consequencesKeratodermaPatientsMalignancyPapillomasPilarisSyndromeAdministrationFacial features