September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial to accurately distinguish Erosive Pustular Dermatosis of the Scalp from Squamous Cell Carcinoma.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
17 citations
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July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
September 2003 in “American Journal of Human Genetics”
June 2021 in “Nepalese Journal of Ophthalmology” A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
41 citations
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January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
67 citations
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August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
2 citations
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May 2023 in “Biology” New mouse models of Pemphigus show severe symptoms and need better treatments.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
11 citations
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December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
November 2024 in “Journal of Investigative Dermatology”