24 citations
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July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
35 citations
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January 2008 in “American Journal of Clinical Dermatology” This case report further supports the association of keratosis follicularis spinulosa decalvans with acne keloidalis nuchae and tufted hair folliculitis.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
31 citations
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February 1982 in “Archives of dermatology” This study found that oral etretinate improved skin conditions like erythrodermic and pustular psoriasis, although less so for psoriasis vulgaris and lichen planus, with notable side effects including cheilitis and mucous membrane dryness.