May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
April 2017 in “Journal of Investigative Dermatology” In laboratory tests and mouse models, this study found that the novel IPC analog SIG-1451 may offer potent anti-inflammatory effects for treating allergic skin inflammation, potentially outperforming some current therapies in specific inflammatory phases.
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.
19 citations
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June 2011 in “British Journal of Dermatology” Severe digestive issues in DRESS need early endoscopy for better treatment.
This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.
23 citations
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October 2021 in “AAPS PharmSciTech” 8 citations
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October 2021 in “The international journal of risk and safety in medicine” This paper describes the development of diagnostic criteria for several enduring sexual dysfunction conditions following the use of certain medications, highlighting common sexual and non-sexual symptoms.
20 citations
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September 2019 in “Epidemiology and Psychiatric Sciences” This review discusses post-SSRI sexual dysfunction syndrome and highlights its significant clinical and regulatory implications, but reports no new findings.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
3 citations
,
January 2014 in “The Journal of Dermatology” This letter discusses a case of hapten-induced lymphadenosis benigna cutis following sensitization with squaric acid dibutylester for treating alopecia areata and reports no new clinical results.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
18 citations
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November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
2 citations
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February 2024 in “Journal of the European Academy of Dermatology and Venereology” This study resulted in a draft version of the Patient‐Reported Impact of Dermatological Diseases measure, PRIDD, which includes 27 items refined from patient consensus and is now undergoing psychometric testing.
May 2021 in “Medicina internă” This case report highlights a 31-year-old male with Adult Onset Still Disease, whose symptoms, including high fever, responded only to pulse-therapy with Methylprednisolone after failing to improve with usual treatments.
In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
10 citations
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February 2022 in “JMIR Dermatology” This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
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.
February 2023 in “Archives of Dermatological Research” This study found that despite challenges, a combination of oral antibiotics, anti-androgens, oral retinoids, biologics, and surgery were important in managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
July 2024 in “Journal of Investigative Dermatology” This study suggests that macrophages, especially CD206+ subsets, play a key role in hair growth induced by squaric acid dibutyl ester, a therapy used for alopecia areata.
13 citations
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January 2024 in “Journal of Nanobiotechnology” This research reported that a newly developed adhesive wound dressing (SIS/PAA/LAP) demonstrated higher tissue adhesion and burst strength compared to conventional products, and improved tissue repair outcomes in animal models, suggesting potential for enhanced wound healing applications.
January 1995 in “Seoul National University Open Repository (Seoul National University)” This study found that skin sulfhydryl oxidase plays a role in keratinization and may contribute to skin's protective functions, with its expression influenced by irritants and differentiation modifiers.
August 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin diseases like atopic dermatitis, acne, and psoriasis are associated with increased odds of alcohol use disorder, with psychiatric conditions such as anxiety and depression partially mediating this relationship, accounting for up to 80% of the risk.
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.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
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.