52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
33 citations
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June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
31 citations
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January 1981 in “Pharmacology & Therapeutics” Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
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.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
1 citations
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October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
January 2019 in “Revista Medicina Cutánea Ibero-Latino-Americana” Vitamin D is important for skin health and can help improve various skin conditions.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
175 citations
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August 1997 in “Nature Genetics” 119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
33 citations
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March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
2 citations
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August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
451 citations
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March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
22 citations
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.