A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
4 citations
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February 2022 in “JEADV Clinical Practice” COVID-19 can cause various skin issues in children, mostly not severe, with chilblain-like lesions being common, especially in adolescents.
81 citations
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
16 citations
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February 2008 in “PubMed” Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
6 citations
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
56 citations
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September 2014 in “Molecular Endocrinology” Vitamin D receptor is essential for hair growth signaling.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
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.
5 citations
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October 2012 in “Veterinary Pathology” A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
August 2022 in “International Journal of Health Sciences (IJHS)” Low levels of zinc, ferritin, and vitamin B12 are linked to severe hair loss in pregnant women during their last two trimesters.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
October 2025 in “The American Journal of Gastroenterology” Excessive zinc intake can cause liver failure.
June 2021 in “Asian Journal of Medical Sciences” Vitamin B12 deficiency can cause reversible skin darkening.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
17 citations
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April 2004 in “Acta Clinica Belgica” UV light makes skin signs of lack of carotene and vitamin A more visible.
10 citations
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June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
April 2016 in “Journal of Investigative Dermatology” Lithocholic acid helps hair growth and regeneration in alopecia by activating vitamin D receptors.
83 citations
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April 1992 in “Clinical Endocrinology” Having enough iron improves the effectiveness of a specific hair loss treatment in women.
28 citations
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January 2012 in “International Journal of Trichology” Genetics affect early female hair loss, severity depends on duration, and low ferritin levels not significant.