14 citations
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January 2008 in “Medical mycology” Canadian porcupines in a Japanese zoo passed a skin fungus to each other.
9 citations
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March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
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.
14 citations
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March 2000 in “Journal of Zoo and Wildlife Medicine” A new type of mite caused hair loss in a koala, which was treated successfully with ivermectin.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
December 1981 in “Pediatric Research” 14 citations
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January 1988 December 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Noggin promotes skin tumors by activating Wnt and Shh pathways.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
39 citations
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September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
1 citations
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December 1997 in “Archives of dermatology” A 34-year-old woman had itchy black bumps on her face due to a condition called trichostasis spinulosa.
1 citations
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June 2025 in “Stem Cell Reviews and Reports” 375 citations
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June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
28 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 21 citations
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April 2000 in “Journal of Cutaneous Pathology” The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
17 citations
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January 2007 in “Annals of Medicine” Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
June 2022 in “IP Indian journal of clinical and experimental dermatology” A woman had a rare, non-cancerous skin growth on her face, which was removed and did not come back after a year.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
4 citations
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August 1991 in “The Journal of Dermatology” The tumor on the man's nose was a rare type called pedunculated follicular hamartoma.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
6 citations
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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.