April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
1 citations
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June 2025 in “Journal of Veterinary Internal Medicine” In this case study, a miniature donkey with multisystemic eosinophilic epitheliotropic disease was euthanized due to laminitis despite treatment for pruritus, inappetence, hypertriglyceridemia, and alopecia.
19 citations
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December 2021 in “Stem Cell Research & Therapy” This study found that Muse cells, when injected subcutaneously, alleviated symptoms of atopic dermatitis in mice, suggesting potential for treating inflammatory skin conditions.
1 citations
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January 1986 in “PubMed” This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.
January 2024 in “JAAD case reports” This study discusses zinc's vital role in skin cell growth and how its deficiency can lead to acrodermatitis enteropathica, marked by symptoms like alopecia and dermatitis. It notes that similar symptoms appear in people with certain metabolic conditions, referred to as acrodermatitis dysmetabolica.
February 2025 in “Cermin Dunia Kedokteran” This article reviews acute disseminated encephalomyelitis, a neurological condition with demyelination of the central nervous system, and reports no new clinical findings; diagnosis is made by exclusion.
August 2025 in “Brazilian Journal of Hair Health” This study found that 29.6% of patients seeking treatment for hair loss meet the criteria for hair-related body dysmorphic disorder, significantly higher than in general dermatology patients.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
January 2024 in “Brazilian Journal of Veterinary Pathology” In this case report, veterinarians observed a 16-year-old mare with symptoms including chronic weight loss, pruritus, muscle atrophy, and lameness, which gradually progressed to neurological issues despite initial treatment.
April 2017 in “Journal of Investigative Dermatology” In this study of 40 dermatomyositis patients, most with moderate-severe disease at baseline improved over time in a polyphasic pattern, while those with mild disease often remained stable.
13 citations
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July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
110 citations
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August 2015 in “Neuropsychopharmacology” In this study, high-dose dutasteride significantly reduced several core symptoms of PMDD compared to placebo, supporting the role of neurosteroids in this condition.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
5 citations
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January 2017 in “Skin appendage disorders” In this case report, the authors linked acute psoriasiform contact dermatitis of the forehead and scalp to a low-laser light cap, identifying DMDE in the fabric as a likely cause.
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.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
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.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
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.
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.
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.
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.
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.
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.
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.
2 citations
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October 2002 in “American Journal of Nursing” This article provides contact details and affiliations for Amy M. Karch and Fred E. Karch; it presents no new research findings.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
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.
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.