Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation
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DOI: 10.1016/j.jdcr.2019.10.026
Abstract: AEI: annular epidermolytic ichthyosis EI: epidermolytic ichthyosis KRT: keratin PPK: palmoplantar keratoderma INTRODUCTION Annular epidermolytic ichthyosis (AEI) is a rare subtype of epidermolytic ichthyosis (EI) characterized by recurrent flares of erythematous and scaly lesions alternating… read more here.
Keywords: ichthyosis; subtype epidermolytic; ichthyosis exceptional; epidermolytic ichthyosis ... See more keywords
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
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DOI: 10.1093/ced/llac069
Abstract: BACKGROUND Epidermolytic ichthyosis (EI) is a major form of nonsyndromic inherited ichthyosis, characterized by erythroderma, marked hyperkeratosis and scale, bulla and erosion at birth, associated with KRT1/KRT10 mutations. The cytokine and chemokine profiles in EI… read more here.
Keywords: interleukin severity; ichthyosis; severity; severity marker ... See more keywords
Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis.
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DOI: 10.1111/pde.14867
Abstract: A 14-year-old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months' duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic variant in… read more here.
Keywords: old girl; year; epidermolytic ichthyosis; year old ... See more keywords
A child with epidermolytic ichthyosis, generalized erythema, and erosions
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DOI: 10.1111/pde.14880
Abstract: An 8monthold girl presented to a clinic for an acute visit. At birth, our patient had diffuse erythema, erosions, and denuded skin. At that time, we were concerned for a variant of epidermolysis bullosa, or… read more here.
Keywords: erythema erosions; ichthyosis generalized; child epidermolytic; generalized erythema ... See more keywords
A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis
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DOI: 10.1371/journal.pone.0275367
Abstract: A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis. The parents of the affected puppy did not show any… read more here.
Keywords: non epidermolytic; ichthyosis; shar pei; gene ... See more keywords
Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity
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DOI: 10.1684/ejd.2020.3764
Abstract: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI. We investigated, for… read more here.
Keywords: ichthyosis; interfamilial phenotypic; phenotypic heterogeneity; epidermolytic ichthyosis ... See more keywords
Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn.
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DOI: 10.5070/d328559243
Abstract: Epidermolytic ichthyosis is characterized by erythema and blistering at birth. We present a neonate with epidermolytic ichthyosis who had a subtle change in clinical findings while hospitalized, including increased fussiness, erythema, and a change in… read more here.
Keywords: staphylococcal scalded; ichthyosis; scalded skin; skin syndrome ... See more keywords