This review discusses the unique characteristics and possible pathophysiology of spiny keratoderma, reporting no new clinical results, but suggests that some therapies might alleviate symptoms.
6 citations
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January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
10 citations
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November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
53 citations
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January 2017 in “Skin appendage disorders” This review discusses botulinum toxin's experimental off-label uses in dermatology, highlighting promising results but emphasizing the need for more clinical trials to confirm efficacy and safety.