July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
47 citations
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June 1996 in “International Journal of Legal Medicine” Hair analysis for drugs needs a better understanding of how drugs enter hair, considering factors like hair structure and pigmentation.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
26 citations
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July 2016 in “PLOS ONE” Activating β-catenin in certain skin cells speeds up hair growth in mice.
3 citations
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September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
February 2026 in “Editora Pasteur eBooks” A comprehensive, personalized approach is needed for treating female pattern hair loss and obesity, involving multiple medical disciplines and lifestyle changes.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
November 2023 in “Journal of cosmetic dermatology” The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
3 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
13 citations
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July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
2 citations
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January 2004 in “Elsevier eBooks” Lupus affects the skin in various ways, and proper skin examination is crucial for diagnosis and treatment.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
November 2013 in “Dalhousie Medical Journal” Cutaneous lupus erythematosus is a common skin condition in lupus, affecting mostly young adult females.
January 2017 in “Springer eBooks” The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
November 2017 in “British Journal of Dermatology” The electronic version of the Dermatology Life Quality Index is as effective as the paper version, with most patients preferring it.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
August 2016 in “Journal of Investigative Dermatology” DHT reduces a cell's ability to promote hair growth, while 3D culture without DHT improves it.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
August 2016 in “Journal of Investigative Dermatology” The endocannabinoid system affects oil production and inflammation in skin cells.
August 2016 in “Journal of Investigative Dermatology” Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
August 2016 in “Journal of Investigative Dermatology” The research found that certain microRNAs are important for human hair growth and health.
August 2016 in “Journal of Investigative Dermatology” 6 citations
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January 2022 in “BIO-PROTOCOL” The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
2 citations
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July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.