2025
Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy
Akiyama M, Choate K, Hernandez-Martin A, Aldwin-Easton M, Bodemer C, Gostyński A, Hovnanian A, Ishida-Yamamoto A, Malovitski K, O’Toole E, Paller A, Schmuth M, Schwartz J, Sprecher E, Teng J, Tournier C, Mazereeuw-Hautier J, Tadini G, Fischer J. Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy. British Journal Of Dermatology 2025, ljaf154. PMID: 40308026, DOI: 10.1093/bjd/ljaf154.Peer-Reviewed Original ResearchDisease-associated genesAutosomal recessive congenital ichthyosisDevelopment of targeted therapiesGene-based classificationErythrokeratodermia variabilis et progressivaExtensive cutaneous involvementAbnormal epidermal differentiationDarier-White diseaseHailey-Hailey diseaseCutaneous involvementGenetic changesCongenital ichthyosisTargeted therapyPhenotypic characteristicsAltered genesAdnexal structuresPalmoplantar keratodermaTherapeutic guidanceSyndrome subtypesClinical relevanceExtracutaneous tissuesDifferentiation disordersHystrixIchthyosisInherited condition
2024
51523 The Phase 3 Vehicle-Controlled ASCEND Trial of Polyethylene Glycol Based Topical Isotretinoin (TMB-001 0.05% ointment) for Treatment of X-Linked and Autosomal Recessive Congenital Ichthyosis: Pharmacokinetic Results Compared with 80 mg Oral Isotretinoin
Bunick C, Huynh T, Jackson M, Lee L, Kempers S, Mendelsohn A, Eursken B, Ahson A, Raiz J, MC. Teng J. 51523 The Phase 3 Vehicle-Controlled ASCEND Trial of Polyethylene Glycol Based Topical Isotretinoin (TMB-001 0.05% ointment) for Treatment of X-Linked and Autosomal Recessive Congenital Ichthyosis: Pharmacokinetic Results Compared with 80 mg Oral Isotretinoin. Journal Of The American Academy Of Dermatology 2024, 91: ab332. DOI: 10.1016/j.jaad.2024.07.1321.Peer-Reviewed Original ResearchAutosomal recessive congenital ichthyosisOral isotretinoinTopical isotretinoinCongenital ichthyosisPharmacokinetic resultsX-linkedIsotretinoinIchthyosis
2020
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Muthusamy K, Macke E, Klee E, Tebben P, Hand J, Hasadsri L, Marcou C, Schimmenti L. Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal Of Medical Genetics Part A 2020, 182: 2442-2449. PMID: 32815268, DOI: 10.1002/ajmg.a.61792.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdolescentAdultAngelman SyndromeChildChild, PreschoolChromosomes, Human, Pair 15Congenital AbnormalitiesFemaleGenes, RecessiveGenomic ImprintingHumansIchthyosisIn Situ Hybridization, FluorescenceInfantInfant, NewbornMaternal InheritancePrader-Willi SyndromeSphingosine N-AcyltransferaseUniparental DisomyYoung AdultConceptsPrader-Willi syndromeAutosomal recessive congenital ichthyosisAutosomal recessive conditionPrader-Willi syndrome/Angelman syndromeCeramide synthase 3Congenital ichthyosisUniparental disomyPathogenic variantsPaternal 15q11-q13 deletionComplex chromosomal rearrangementsCase of autosomal recessive congenital ichthyosisNovel pathogenic variantsDiagnosis of Prader-Willi syndromeRecessive conditionRecessive inherited diseaseAutosomal recessive inherited diseaseChromosomal rearrangementsGenetic mechanismsImprinting defectsMaternal UPD15Prader-WilliClinical courseUPD15Case reportClinical phenotype
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