June 2018 in “The Journal of Sexual Medicine” Low-intensity shock wave therapy is effective in treating erectile dysfunction in diabetic patients.
In this study, radial shockwave therapy significantly improved muscle spasticity, ankle range of motion, and functional abilities in children with spastic cerebral palsy, suggesting it may help them achieve greater autonomy in daily activities.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
April 2022 in “Reactions Weekly” 7 citations
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March 2023 in “European Journal of Dermatology” Using Selenium Disulfide shampoo weekly helps prevent scalp dermatitis flare-ups.
July 2026 in “Journal of Investigative Dermatology” 1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
6 citations
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April 1990 in “The Journal of Dermatologic Surgery and Oncology” Dermatologic surgery has greatly improved with new techniques over the years.
4 citations
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January 2013 in “International Journal of Trichology” This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.
March 2026 in “Pharmaceutics” This review discusses therapeutic deep eutectic solvents as promising "green" solutions for enhancing drug solubility and delivery through the skin, reporting no new clinical results and highlighting future research directions.
April 2018 in “Journal of Investigative Dermatology” This study found that dermal white adipose tissue surrounding human hair follicles enhances proliferation, pigmentation, and hair shaft elongation in an ex vivo setting.
November 2025 in “Journal of Diabetes Investigation” In this case study, a man with Werner syndrome and diabetes saw improved glycemic control and insulin resistance with dapagliflozin, suggesting its potential usefulness for managing diabetes in similar patients.
1 citations
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February 2018 in “British Journal of Dermatology” The CWARTS tool is a promising method for assessing warts and could improve treatment and research.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
1 citations
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January 2025 in “Advances in Wound Care” This study identified dual epithelial and mesenchymal traits in dermal sheath cells during wound repair, suggesting they could be targeted to enhance healing.
1 citations
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March 2019 in “Journal of AOAC INTERNATIONAL” New method quickly and accurately measures dexpanthenol in hair products.
March 2019 in “Journal of Investigative Dermatology” This review discusses a quiz related to seborrheic dermatitis diagnosis and key findings from a previous study, but reports no new clinical results.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
8 citations
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September 2004 in “Contact dermatitis” Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.