August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
January 2008 in “Medical Entomology and Zoology”
1 citations
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September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
27 citations
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December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
5 citations
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May 2007 in “Pediatric Dermatology” Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
The document concludes that the girl's hairlessness is likely inherited from her parents.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
7 citations
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May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
4 citations
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December 2017 in “Journal of zoo and wildlife medicine” Hormonal changes during the reproductive cycle may cause seasonal skin problems in captive female fossas.
12 citations
,
March 2004 in “Journal of Investigative Dermatology”
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
187 citations
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May 1988 in “Differentiation” Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.