24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
9 citations
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March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
November 2019 in “European journal of internal medicine” This report documents a case of Cronkhite-Canada Syndrome in a 56-year-old Laotian man, who successfully improved with vitamin supplementation and medical treatment after experiencing weight loss, alopecia, and gastrointestinal polyposis.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
2 citations
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August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.