2 citations
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August 2013 in “British Journal of Dermatology” This case report observed a dramatic improvement in a 15-year-old girl's pachyonychia congenita symptoms during chemotherapy for Ewing sarcoma, suggesting chemotherapy's potential role in managing hyperkeratotic conditions.
17 citations
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January 1993 in “Dermatology” This report describes two cases of chronic arsenicism, one involving criminal poisoning by a sibling and the other associated with prolonged use of Fowler's solution.
11 citations
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January 2015 in “JOURNAL OF HEALTH SCIENCE” This case report details a 12-year-old boy with Lichen Spinulosus and plantar keratoderma, who responded well to topical treatments including lactic acid, urea, and betamethasone valerate.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
1 citations
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September 2001 in “PubMed” This review discusses the effectiveness and risks of acitretin in treating various skin conditions, highlighting its teratogenic potential and the necessary precautions for its use.
108 citations
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November 1980 in “British Journal of Dermatology” This article reviews the current status of oral retinoids in dermatology and reports no new clinical findings.
6 citations
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February 2019 in “JAAD case reports” This case report suggests acitretin as a potential treatment for pseudoainhum, following the successful resolution of the condition in a patient with palmoplantar keratoderma and congenital alopecia.
November 2024 in “IP Indian Journal of Clinical and Experimental Dermatology” In this study, researchers found that cutaneous hyperpigmentation is a primary dermatological manifestation in patients with Graves' disease, with certain treatments like carbimazole and propranolol being statistically associated with skin symptoms.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
128 citations
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September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
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.
31 citations
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January 1981 in “Pharmacology & Therapeutics” In this study, 13-cis-5S*,8S*-epidioxy-5,8-dihydroretinoic acid was found to be significantly more cytotoxic to cancer cell lines than other retinoic acid analogs evaluated.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
April 2016 in “Journal of the American Academy of Dermatology” Treatment improved some symptoms but not all.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
44 citations
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January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
13 citations
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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.
November 2025 in “Indian Dermatology Online Journal” This case report describes a patient with Clouston syndrome who developed squamous cell carcinoma, highlighting the need for regular follow-up in patients with chronic paronychia that do not respond to conventional treatments.
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.
7 citations
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October 2022 in “Development” This study demonstrated that Wnt5a can serve as an orienting signal for mouse skin's planar cell polarity but its overexpression disrupts hair follicle orientation, which can be rescued by modifying Fzd6 levels.
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.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
18 citations
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June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.