Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
6 citations
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January 2020 in “Open Journal of Psychiatry” The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
2 citations
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September 2024 in “PLoS ONE” Bendamustine combined with tucidinostat may effectively treat adult T-cell leukemia.
15 citations
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January 2018 in “Journal of Cutaneous Medicine and Surgery” It's important to understand the differences between FMF and PFM in children.
December 2011 in “Journal of the Turkish Academy of Dermatology” Pityriasis rubra pilaris can occur with myasthenia gravis.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
1 citations
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January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
1 citations
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October 2023 in “Journal of the Pakistan Medical Association” Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
February 2025 in “Cermin Dunia Kedokteran” ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
1 citations
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July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
4 citations
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January 2017 in “Ciência Rural” A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
January 2025 in “Journal of Case Reports and Scientific Images” Early diagnosis and treatment are crucial for managing Folliculotropic Mycosis Fungoides on the scalp.
2 citations
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December 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document suggests a new way to categorize skin and mind disorders into two main groups to reduce confusion.
1 citations
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July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
10 citations
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February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
April 2026 in “Frontiers in Pharmacology” Many medications may be linked to cognitive disorders, but most lack warnings on labels.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Mogamulizumab can cause hair loss, often linked to a better treatment response.
October 2023 in “Journal of the European Academy of Dermatology and Venereology” Patients with skin diseases rated psychological effects as most impactful, needing a treatment approach that addresses both mind and body.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.