19 citations
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January 2015 in “Skin appendage disorders” The report found a new type of hair loss in African-American women that affects more areas of the scalp than previously thought.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
April 1980 in “Archives of Dermatology” Zinc deficiency didn't cause visible hair changes in the patient.
February 2026 in “Cosmetics” Perifollicular elastolysis is poorly understood, with limited treatment options and inconsistent results.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
4 citations
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May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
January 2025 in “Journal of Fungi” Advanced dermoscopy techniques improve diagnosis and treatment monitoring for Kerion celsi but don't guarantee full hair regrowth.
1 citations
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November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
14 citations
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November 1987 in “Journal of The American Academy of Dermatology” A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
27 citations
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April 2011 in “Folia Histochemica et Cytobiologica” DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
9 citations
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January 2006 in “Cutaneous and ocular toxicology” L-cystine, D-pantothenat, and miliacin together significantly boost keratinocyte growth and metabolism.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
21 citations
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
September 2022 in “Skin appendage disorders” Seborrheic dermatitis may contribute to the development of central centrifugal cicatricial alopecia.
26 citations
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July 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein Par3 is crucial for healthy skin, affecting the skin barrier, cell differentiation, and stem cell maintenance.
July 2015 in “Actas Dermo-Sifiliográficas” A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.