April 2023 in “International journal of molecular sciences” This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.
January 2005 in “Journal of Cutaneous Pathology” This article discusses various disorders of the hair erector muscle, compiling conditions that involve it passively or actively, but reports no new clinical findings.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
3 citations
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March 2002 in “Linchuang pifuke zazhi” This study analyzed clinical manifestations of dermatomyositis in 18 patients, reporting common symptoms such as skin rash, proximal muscle weakness, and elevated serum markers, with treatment typically involving prednisolone and hydroxychloroquine.
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.
8 citations
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March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
This case study describes a 31-year-old man with myotonia and a history of hypertrophic cardiomyopathy and androgenic alopecia, who presented with arm and leg weakness.
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.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
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.
4 citations
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February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
10 citations
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January 2016 in “Dermatology” This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.
18 citations
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November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
48 citations
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May 2023 in “Nature Communications” In a study on muscle regeneration in mice, researchers found that platelet-secreted CXCL7 is crucial for recruiting neutrophils to injury sites, aiding early muscle repair and optimal regrowth, suggesting potential therapeutic uses for boosting muscle healing.
1 citations
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April 2018 in “Rheumatology” This study found that 59.7% of lupus patients self-reported alopecia, which was linked to anti-Ro antibody presence and cutaneous SLE symptoms but not to age, ethnicity, or medication.
January 2015 in “Journal of Neuromuscular Diseases” This case report describes two boys with Danon disease, initially misdiagnosed due to increased transaminases, who exhibited cardiac issues and muscle pseudohypertrophy.
65 citations
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September 1998 in “Eye” This study observed that 19% of patients with Graves' orbitopathy experienced induced diplopia after orbital decompression, with high patient satisfaction reported following both coronal and translid approaches.
1 citations
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August 2021 in “Movement disorders clinical practice” This case report describes the first documented occurrence of hemi-Isaac's syndrome or acquired neuromyotonia affecting only one side of the body, with symptoms improving after immunomodulatory treatment.
8 citations
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study describes three female cases of androgen-dependent diseases in myotonic dystrophy, suggesting that peripheral androgen response, rather than serum levels, may drive such conditions.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that anti-Ku-positive patients exhibit heterogeneous muscle features, primarily showing a myositis pattern with necrotizing fibers and vacuolar changes, and suggests autophagy may play a significant role in their pathogenesis.
373 citations
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September 2009 in “Obstetrics & Gynecology” This review examines the best available evidence for diagnosing and managing PCOS but reports no new clinical results.
291 citations
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October 2005 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that rat whisker follicle stem cells can be expanded in culture and transplanted to form functional hair follicles, demonstrating their multipotency and potential for regenerative medicine.
254 citations
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September 2014 in “Menopause” The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
119 citations
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October 1992 in “Fundamental & Clinical Pharmacology” This review discusses the pharmacological properties and therapeutic potential of K+ channel opening compounds, noting their prospective use in treating cardiovascular and respiratory conditions, but reports no new results.
59 citations
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June 2022 in “Frontiers in medicine” This review discusses the complex causes and treatment challenges of chronic inflammatory skin diseases, emphasizing the need for biomarkers to predict treatment responses; it reports no new clinical results.