October 2025 in “Journal of the Endocrine Society” This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.
8 citations
,
September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
45 citations
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July 2002 in “The Neurologist” This article reviews the challenges of using disease-modifying therapy for multiple sclerosis and offers strategies to improve treatment adherence and manage adverse effects, but reports no new clinical findings.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
2 citations
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September 2018 in “JAAD case reports” This report describes a rare case of folliculotropic and syringotropic CD8 mycosis fungoides with unusual widespread mucosal involvement.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
10 citations
,
July 2014 in “Annals of Saudi Medicine” This case report describes a rare concurrence of Morbihan disease with eyelid edema and extrafacial lupus miliaris disseminatus faciei in a patient, noting improvement of truncal lesions with roxithromycin and resolution of eyelid edema following surgical treatment.
1 citations
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January 2000 in “Journal of pharmacopuncture” This study confirmed that microneedle therapy systems (MTS) significantly improve hair growth and skin conditions, including acne and acne scars, without serious side effects.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
3 citations
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July 2021 in “Cutis” This case report described a 62-year-old woman with dermatomyositis whose multiple subcutaneous nodules persisted despite treatment with prednisone and methotrexate, prompting further dermatological evaluation.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
6 citations
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June 1986 in “The Journal of Dermatology” This report discusses a case of reticular erythematous mucinosis syndrome, highlighting minimal mucin deposition and significant lymphocytic infiltration around the hair follicle, contributing to the ongoing debate about its nature as a mucinosis.
41 citations
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July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
22 citations
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March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
August 2018 in “Journal of Investigative Dermatology” This case report describes the first known instance of dermatomyositis-related panniculitis in the neck and mediastinal region, effectively treated with corticosteroids, dapsone, and colchicine.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
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.
5 citations
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January 2012 in “PubMed” This study observed that anti-multiple nuclear dots antibodies, typically markers for primary biliary cirrhosis, were also present in patients with various autoimmune and connective tissue diseases, without correlating to disease activity or specific skin features.
January 2002 in “대한피부과학회지” This study analyzed clinical manifestations in 18 dermatomyositis patients, noting that all exhibited skin rash and variable symptoms like itching and muscle weakness, with treatment involving prednisolone and hydroxychloroquine.
15 citations
,
March 2023 in “BioMed” This review discusses multisystem inflammatory syndrome in adults (MIS-A) related to SARS-CoV2 and outlines the existing knowledge and unanswered questions, reporting no new clinical results.
2 citations
,
July 2022 in “Dermatology Reports” This case study describes a 23-year-old woman with erosive pustular dermatosis of the scalp who later developed multiple sclerosis, suggesting a possible shared immunological etiology involving neutrophil hyperactivation.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
April 2020 in “Journal of the Endocrine Society” This case report describes the first known instance of a patient with myotonic dystrophy presenting with type I diabetes, Hashimoto’s thyroiditis, and follicular variant papillary thyroid cancer, suggesting a potential link between these conditions.
6 citations
,
October 2001 in “British Journal of Ophthalmology” This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.
18 citations
,
March 2006 in “Expert Review of Neurotherapeutics” This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.
This study found that scalp care using micro-needle therapy was effective in improving hair density and thickness in middle-aged women with menopausal symptoms compared to a control group.