13 citations
,
January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
2 citations
,
May 2023 in “International Journal of Molecular Sciences” This review discusses current knowledge about the TRPV3 ion channel's role in skin functions and diseases, highlighting its potential as a therapeutic target for pain and itch, though suitable ligands are limited.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
25 citations
,
March 2021 in “Australasian Journal of Dermatology” This case study reports a 70-year-old man with treatment-resistant pityriasis rubra pilaris achieving complete clinical remission with ustekinumab, adding to evidence supporting biologic therapy when TNF inhibitors are unsuitable.
9 citations
,
August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
4 citations
,
January 2023 in “Frontiers in Medicine” This review discusses the use of zinc supplementation in dermatology for various skin conditions and reports no new clinical results, providing references for its application.
124 citations
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December 2016 in “Pharmaceuticals” This review discusses the functions and potential therapeutic targeting of TRP ion channels in the skin, noting their involvement in both physiological processes and various pathological conditions, but reports no new experimental results.
126 citations
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January 1987 in “Journal of The American Academy of Dermatology” This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.
116 citations
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December 2017 in “International Journal of Women's Dermatology” This review discusses various treatment options for adult female acne, highlighting the need for tailored approaches due to individual patient needs and reports no clinical outcomes.
19 citations
,
January 2015 in “Current problems in dermatology” This review discusses environmental factors like UV radiation and smoking that affect hair health and highlights the potential role of nutrition, but it reports no new results.
15 citations
,
October 2017 in “Clinics in Dermatology” This article reviews risk factors and warning signs of elder abuse in different settings, emphasizing the importance of dermatologists in correctly identifying potential abuse injuries, but presents no new clinical findings.
11 citations
,
May 2016 in “Journal of Cutaneous Medicine and Surgery” This study found that skin diagnoses in rheumatology patients were often unrelated to their underlying rheumatologic diseases, highlighting the importance of collaboration between dermatologists and rheumatologists.
January 2019 in “ARC journal of pharmaceutical sciences” This review traces the historical understanding and treatment of acne across ancient Egyptian, Greek, and Roman civilizations, but provides no new clinical findings.
16 citations
,
April 2011 in “Journal of The American Academy of Dermatology” This article overviews dermatologic findings in forensic pathology and reports no new results; it emphasizes the importance of recognizing skin manifestations in identifying types of injury.
48 citations
,
November 1992 in “International Journal of Dermatology” This article discusses the history and terminology of toxic epidermal necrolysis but reports no new clinical results.
18 citations
,
June 2019 in “Clinical research in dermatology” This review discusses psychological impacts associated with facial acne, noting that high levels of anxiety and depression among these patients are not linked to oxidative stress, and reports no new clinical results.
1 citations
,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews the presentations from the First Symposium of Ichthyosis Experts in Spain, held to address the challenges in organizing care for ichthyosis patients, and reports no new clinical results.
55 citations
,
July 1983 in “Journal of the American Academy of Dermatology” This case study of three siblings highlights the importance of recognizing dermatologic signs—alopecia and periorificial dermatitis—for early diagnosis and treatment of biotin-responsive multiple carboxylase deficiency.
1 citations
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November 2011 in “Turkish Journal of Dermatology” In this case report, a 6-year-old male with biotinidase deficiency experienced marked improvement in dermatological symptoms, including alopecia and periorificial lesions, following biotin treatment.
50 citations
,
March 1992 in “PubMed” This review discusses the clinical manifestations of malnutrition in children, particularly highlighting the overlapping skin changes from various nutrient deficiencies, and reports no new clinical results.
50 citations
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May 1985 in “The journal of pediatrics/The Journal of pediatrics” This study reported successful treatment of biotin deficiency in three patients receiving total parenteral nutrition, suggesting current biotin supplementation recommendations may be inadequate to maintain normal biotin status.
31 citations
,
March 1963 in “American journal of diseases of children” This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
This study found clinical markers like leukotrichia and trichrome lesions in non-segmental vitiligo patients were linked to greater disease extent and poor response to treatment.
December 2025 in “Cureus” In this report, successful management of inherited acrodermatitis enteropathica, a zinc absorption disorder due to an SLC39A4 gene defect, was demonstrated in an infant through zinc supplementation.
October 2025 in “BMC Pediatrics” This case report describes an 8-year-old boy with acrodermatitis enteropathica who showed significant recovery from severe symptoms after receiving a therapeutic zinc supplement.
June 2022 in “Journal of medical science and clinical research” This case report describes a weaning infant diagnosed with Brandt syndrome displaying periorificial dermatitis and rapid symptom improvement following zinc supplementation.
72 citations
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October 1992 in “Archives of Dermatology” This study describes five patients whose cystic fibrosis was initially indicated by a rash associated with protein-energy malnutrition, highlighting the importance of early symptom recognition for timely diagnosis and treatment.