3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
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.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
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.
81 citations
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July 2012 in “Translational Psychiatry” In this pilot study, no significant differences were observed between memantine and placebo groups in young adults with Down syndrome on the primary memory outcomes, but some improvement was noted in a secondary measure.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
February 2024 in “Journal of dermatology research reviews & reports” In this case report, a rare occurrence of Paraneoplastic Dermatomyositis following breast cancer was observed in a 50-year-old woman, indicating the importance of multidisciplinary approaches for identifying underlying malignancies when Dermatomyositis presents as a primary symptom.
July 2025 in “Ultrasound in Medicine & Biology” This study found that nanobubble-encapsulated diclofenac with ultrasound-targeted microbubble destruction (DNBs-UTMD) can enhance the anti-tumor efficacy of Doxil® by regulating the tumor immune microenvironment, improving drug uptake, and increasing T cell responses while reducing immune-suppressive cells in the process.
7 citations
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September 2021 in “Dermatologic Therapy” This review summarizes treatments for scalp involvement in dermatomyositis and suggests that therapies like low-dose naltrexone and platelet-rich plasma may warrant further investigation, although evidence remains limited.
January 2026 in “Open Science Framework” This scoping review aims to map existing literature on alopecia associated with multiple sclerosis disease-modifying therapies, exploring types, incidence, and potential mechanisms, while noting that observed cases may be related more to treatment-induced immune changes than the disease itself.
1 citations
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April 2022 in “Rheumatology” This case study describes a 4-year-old boy with juvenile dermatomyositis whose severe subcutaneous edema resisted conventional treatment, necessitating aggressive immunosuppression for disease control.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
9 citations
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November 2000 in “Journal of the American Academy of Dermatology” This report presents a rare case of a patient with type Wong dermatomyositis who also exhibits clinical and histologic features of porokeratosis, potentially signaling associated malignancies in dermatomyositis patients.
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.
1 citations
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January 2024 in “BMJ Case Reports” In this case report, a woman in her 50s was diagnosed with meningitis linked to mixed connective tissue disease after presenting symptoms similar to infectious meningitis, but with no infection detected and serological evidence pointing to the autoimmune condition.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
October 2023 in “Journal of Advanced Sciences” This review highlights PRF's potential as a regenerative medicine tool, detailing its diverse applications in dentistry, orthopedics, and dermatology, but presents no new clinical results.
August 2025 in “Therapeutics” In this study, low concentrations of DMSO were found to decrease androgen receptor expression and inhibit the migration of prostate cancer cells, suggesting potential as an anticancer therapy.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
April 2018 in “Journal of Investigative Dermatology” This study suggests that for dermatomyositis patients with minimal skin disease activity, further improvement in cutaneous symptoms may not translate into better quality of life, highlighting a need to revise trial endpoints.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
This case report describes a 40-year-old man with four autoimmune diseases leading to MAS, and suggests an additional classification category for MAS including autoimmune hypothyroidism, alopecia universalis, celiac disease, and immune thrombocytopenic purpura.
31 citations
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July 1975 in “PubMed” This study reported that intensive immunosuppression in multiple sclerosis patients significantly reduced relapse rates versus pre-treatment expectations, though some required ongoing treatment after tapering.
November 2023 in “Journal of Pakistan Society of Internal Medicine.” This review discusses the mechanisms, uses, and side effects of conventional synthetic DMARDs, particularly methotrexate, for rheumatoid arthritis, but reports no new clinical findings.
5 citations
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January 2022 in “Journal of Clinical Medicine” This study observed that videodermoscopic assessments of dermatomyositis patients revealed specific vascular and pigmentary features, suggesting it may be useful for preliminary diagnosis.
4 citations
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December 2021 in “Journal of Pharmacopuncture” This study reports that the microneedle therapy system has demonstrated significant effects on acne, acne scars, and hair loss treatment without serious side effects in Korean studies over the past decade.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
2 citations
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November 1998 in “Journal of The European Academy of Dermatology and Venereology” This study focused on the ultrastructural and immunohistochemical aspects of dermal mast cells in systemic mastocytosis and their interaction with the epidermal melanin unit.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.