29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
1 citations
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July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
16 citations
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September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
September 2020 in “Benha Journal of Applied Sciences” Patients with Alopecia Areata have lower levels of zinc and biotin than healthy individuals.
April 2024 in “International Journal of Advanced Research” Vitamin B12 deficiency is linked to hair loss and skin pigmentation changes.
82 citations
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October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
77 citations
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August 1986 in “Archives of Dermatology” Vitamin B12 deficiency can cause skin and hair color changes, which are reversible with treatment.
June 2021 in “Asian Journal of Medical Sciences” Vitamin B12 deficiency can cause reversible skin darkening.
11 citations
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August 1986 in “Archives of Dermatology” Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
9 citations
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February 1981 in “Australian journal of biological sciences” Lambs fed a liquid diet showed abnormal wool and skin, which improved with more B-vitamins, suggesting a link to B-vitamin deficiency.
April 2019 in “Journal of the Endocrine Society” An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Biotin may help with hair loss.
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.
1 citations
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January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
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.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
1 citations
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July 2022 in “Dermatologic Therapy” Both brands of biotin and dexpanthenol injections improved hair loss, with Bayer also increasing the ratio of thick to thin hairs.
49 citations
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July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
5 citations
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August 2015 in “Sultan Qaboos University medical journal” Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
2 citations
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
January 2025 in “Archives of Dermatological Research”
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.