9 citations
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February 2016 in “Cambridge University Press eBooks” This chapter reviews the role of self in disorders related to the OCD spectrum, such as hoarding disorder, body dysmorphic disorder, and trichotillomania, and reports no new findings.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
June 2026 in “Indian Journal of Case Reports” This source reports a rare case of a 10-year-old child developing periorbital milia as an unusual cutaneous manifestation of chronic graft-versus-host disease following allogeneic stem cell transplantation, suggesting that immune-mediated epidermal disruption may lead to milia formation.
4 citations
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September 2011 in “Journal of the American Academy of Dermatology” This case report describes a 46-year-old man who developed folliculotropic mycosis fungoides, a form of post-transplant lymphoproliferative disorder, following renal transplantation.
2 citations
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May 2025 in “Infection” This source underscores the need for a multidisciplinary effort to raise awareness of Demodex and demodicosis, suggesting that prioritizing research, diagnostics, and treatment development could enhance global health outcomes and improve quality of life for affected individuals.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
133 citations
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May 2016 in “Cell Host & Microbe” In this study, human dermal fibroblasts were identified as natural host cells that support productive Merkel cell polyomavirus infection, and the MEK antagonist trametinib was introduced as an effective inhibitor to control the virus.
14 citations
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July 2004 in “Australasian Journal of Dermatology” This case study describes a patient with rapidly progressing follicular mycosis fungoides, highlighting its unusual histology and challenges in diagnosing it against cutaneous B-cell lymphoma.
February 2022 in “Journal of Clinical and Experimental Investigations” This study found that patients with Fibromyalgia Syndrome had more frequent skin symptoms and lower quality of life compared to controls, suggesting the need for a multidisciplinary treatment approach.
July 2015 in “Actas Dermo-Sifiliográficas” A woman experienced excessive hair growth after using a hair loss treatment with minoxidil.
67 citations
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August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
July 2024 in “Journal of Investigative Dermatology” 3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
8 citations
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October 2020 in “Clinical Psychopharmacology and Neuroscience” This case series found that low-frequency repetitive transcranial magnetic stimulation may benefit some patients with trichotillomania, although one of five patients experienced worsening symptoms after treatment.
June 2023 in “JAAD Case Reports” This article reviews the epidemiology of desmoplastic melanoma and reports no new clinical findings, emphasizing higher risks in chronically sun-exposed older males.
2 citations
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September 2007 in “International Journal of Impotence Research” This case study reports that low-dose testosterone therapy improved libido and sexual functions in a 36-year-old fragile X carrier female with hypoactive sexual desire disorder when monitored regularly for lab parameters.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
December 2025 in “The AAPS Journal” Finasteride and dutasteride's effects are mainly due to target binding saturation and slow enzyme turnover.
1 citations
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March 2025 in “Portuguese Journal of Dermatology and Venereology” This study found a considerable prevalence of metabolic syndrome among women with melasma, with 29.3% meeting criteria for this condition, suggesting the importance of considering metabolic factors in managing melasma and preventing related complications.
2 citations
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December 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study, involving an international panel of 16 psychodermatology experts, proposed a new classification system for psychodermatology disorders that aims to unify previous classifications and improve their management by systematizing disorders into two main categories: primary mental health disorders and primary skin disorders.
407 citations
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January 2008 in “Cochrane Database of Systematic Reviews” This review found that glucocorticoid corticosteroids can improve muscle strength and function in boys with Duchenne muscular dystrophy in the short term, but they are associated with significant short-term adverse effects.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
October 2024 in “Cermin Dunia Kedokteran” This article discusses the surveillance and spread of hand, foot, and mouth disease in China, Singapore, and Indonesia, and reports no new results, emphasizing the need for improved prevention and management strategies.
April 2017 in “Medicina Clínica (english Edition)” This review discusses the diagnosis and management of acquired haemophilia and reports no new findings; the authors highlight the importance of early diagnosis to reduce mortality.
January 2026 in “Clinical Case Reports” This case report describes a 6-year-old girl diagnosed with the rare concurrence of monilethrix and trichorrhexis nodosa, characterized by sparse, brittle hair, who showed minimal clinical improvement with low-dose oral and topical minoxidil treatment.
October 2025 in “Pediatric Dermatology” In this case report, a 16-year-old boy diagnosed with lupus miliaris disseminatus faciei showed improvement in facial granulomatous lesions with scarring after treatment with doxycycline, highlighting the potential need to explore treatment options for this condition characterized by asymptomatic papules on the central face.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.