189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
3 citations
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April 2017 in “Journal of Investigative Dermatology” Dermoscopy is useful for diagnosing facial actinic keratosis by identifying specific skin patterns.
3 citations
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May 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
April 1977 in “Pediatric Research” 27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
12 citations
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March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
3 citations
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January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.