November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
20 citations
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January 2015 in “Polish Journal of Pathology” Reflectance confocal microscopy is a useful, non-invasive tool for diagnosing some skin diseases, with potential for future improvements.
20 citations
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September 1983 in “Archives of dermatology” The new synthetic retinoid RO 13-6298 effectively treated severe psoriasis at low doses with manageable side effects.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
December 2025 in “Cureus” Alopecia areata and psoriasis vulgaris can inhibit each other in the same areas.
Defective nuclear transport may cause gene expression changes in Progeria.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
June 2015 in “Annals of the Rheumatic Diseases” Managing multiple autoimmune diseases in one patient is very challenging.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
53 citations
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February 2017 in “Journal of The American Academy of Dermatology” The conclusion is that high-potency steroids or tacrolimus are effective treatments for erosive pustular dermatosis of the scalp.
7 citations
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August 2005 in “British Journal of Dermatology” Etanercept improved symptoms of a specific type of psoriatic arthritis in a patient who didn't respond to other treatments.
6 citations
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June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.
1 citations
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November 2020 in “International Journal of Dermatology” Methotrexate caused a rare skin rash in a rheumatoid arthritis patient, which resolved after stopping the drug.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
January 2026 in “Case Reports in Rheumatology” Rituximab improved her dermatomyositis better than usual treatments.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
1 citations
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May 2021 in “Mayo Clinic Proceedings” A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
4 citations
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May 2018 in “Journal of Neuro-Ophthalmology” New treatments for relapsing multiple sclerosis are more effective and convenient but have higher risks of serious side effects.
24 citations
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June 2012 in “Journal of Feline Medicine and Surgery” Devon Rex cats with skin issues were successfully treated with antifungal medication.
4 citations
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October 2003 in “PubMed” Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
Psoriasis is a common, genetically influenced skin disease worsened by stress and lifestyle, but targeted treatments are promising.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.