Results 91 to 100 of about 238,615 (114)

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients. [PDF]

open access: yesHum Genomics
Ho M   +10 more
europepmc   +1 more source

Past, Present, and Future of Sodium Hypochlorite in Dermatology: A Scoping Review. [PDF]

open access: yesAm J Clin Dermatol
Chang CH   +5 more
europepmc   +1 more source

Subcorneal hematoma in superficial epidermolytic ichthyosis mimicking a melanocytic pigmented lesion

open access: yesEuropean Journal of Dermatology, 2011
ejd.2011.1492 Auteur(s) : Riccardo Balestri, Emi Dika, Annalisa Patrizi, Iria Neri ilsabo@libero.it Division of Dermatology, S. Orsola-Malpighi University Hospital, Via Massarenti 1, 40138 Bologna, Italy A 22-year-old woman affected by superficial epidermolytic ichthyosis (SEI) referred to the Outpatient Consultation for Rare Diseases of the Department
BALESTRI, RICCARDO   +3 more
openaire   +3 more sources

Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis

Pediatric Dermatology, 2016
AbstractSuperficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18‐month‐old girl presenting with marked hypertrichosis.
Ana, Gameiro   +3 more
exaly   +3 more sources

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation

Journal of Dermatological Science, 2015
Satoko Minakawa   +2 more
exaly   +2 more sources

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

open access: yesInternational Journal of Molecular Sciences, 2020
Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis.
Elisa Pisaneschi   +2 more
exaly   +2 more sources

Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes [PDF]

open access: yesJournal of Investigative Dermatology, 2019
Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults.
Patricia Ebner, Stefan Hainzl
exaly   +2 more sources

Superficial Epidermolytic Ichthyosis: A Report of Two Families

Pediatric Dermatology, 2012
Abstract:  Superficial epidermolytic ichthyosis (SEI), previously known as ichthyosis bullosa of Siemens, is a rare genetic skin condition, characterized by blisters and hyperkeratosis. It can be easily confused with epidermolytic hyperkeratosis, known now as epidermolytic ichthyosis, and genetic testing can be helpful in differentiating between the ...
Tessa, Cervantes   +2 more
openaire   +2 more sources

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