ArticlePediatric dermatology2018
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
Article in Pediatric dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.The American journal of case reports · 2022Review
- Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation.JAAD case reports · 2020Article
- Annular epidermolytic ichthyosis: a case report and literature review.Anais brasileiros de dermatologiaArticle
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Authors and funding
4 authors at 3 institutions in 1 country.
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Abstract
Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Genetic analysis revealed a c.1436T>C transition mutation in the keratin 1 gene, and histopathology showed epidermolysis and hyperkeratosis, confirming the diagnosis of AEI.
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Registered trials
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