5 citations
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June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
1 citations
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July 1991 in “PubMed” This case report describes a patient with adrenomyeloneuropathy, highlighting unusual MRI findings of high signal areas in the right striatum.
17 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where neurogenic bladder dysfunction developed, attributed to demyelinating lesions in the patient's peripheral nerves, spinal cord, and cerebral white matter.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
January 2025 in “Genetics in Medicine Open” This case report highlights a 33-year-old male initially misdiagnosed with Neuromyelitis Optica, whose symptoms may improve with biotin treatment due to late onset biotinidase deficiency.
112 citations
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July 2008 in “Dermatologic Therapy” This review outlines the diagnosis and management of folliculitis decalvans, an inflammatory scalp disorder, and highlights Staphylococcus aureus and immune response deficiencies as key factors in its development.
36 citations
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January 2012 in “International Journal of Trichology” This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.
24 citations
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January 2000 in “Dermatology” This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.
12 citations
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June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
9 citations
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February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.
2 citations
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July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
September 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document concludes that treatments like oral anti-androgens, minoxidil, and topical spironolactone can be effective for hair loss in men and women.
38 citations
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January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.
40 citations
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June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study revealed that deficiency in the enzyme FA2H in mice affected sebaceous gland function, altered sebum composition, and caused cycling alopecia, highlighting FA2H's role in hair follicle homeostasis.
May 1993 in “Current problems in dermatology” This review discusses diagnostic approaches for childhood skin diseases with fever through clinical observations and covers recent advances in understanding the pathogenesis and epidemiology of related infections, without reporting new clinical results.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
3 citations
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April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
April 2007 in “CRC Press eBooks” This article discusses various vitamin deficiencies and their neurological implications without providing new clinical results; it serves as an informative chapter on nutrient-related neurological conditions.
37 citations
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August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
26 citations
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January 2018 in “Annals of dermatology/Annals of Dermatology” This review examines current understanding of hair graying and suggests it may be caused by depletion of melanocyte stem cells due to genotoxic stress or dysfunctional melanocytes from oxidative stress.
2 citations
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November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
15 citations
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October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.