194 citations,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
72 citations,
October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
43 citations,
April 2005 in “The Journal of Dermatology” Biotin supplements improved skin and hair in a biotin-deficient infant on amino acid formula.
23 citations,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
16 citations,
October 2007 in “PubMed” Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
15 citations,
January 2010 in “Experimental Dermatology” Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
8 citations,
February 2007 in “Journal of The American Academy of Dermatology” Higher serum ferritin levels than currently used might be needed to rule out iron deficiency in women with hair loss.
2 citations,
June 2018 in “Sudan journal of medical sciences” Low vitamin D levels can cause hair loss and supplements may improve it.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
October 2023 in “Journal of Family Medicine and Primary Care” More awareness and education on iron deficiency anemia are needed in Riyadh.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
48 citations,
May 2018 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” People with alopecia areata often have lower vitamin D levels and are more likely to be deficient in it.
21 citations,
September 2018 in “International journal of women’s dermatology” People with Lichen planopilaris are more likely to have certain autoimmune and endocrine disorders but less likely to have conditions like allergies and diabetes.
4 citations,
March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
2 citations,
October 2016 in “Nutrition in clinical practice” Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
1 citations,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
1 citations,
January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
1 citations,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
December 2022 in “Journal of The American Academy of Dermatology” The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.
June 2019 in “Kufa journal for veterinary medical sciences” Vitamin C deficiency causes severe skin problems in newborn dairy calves.
September 2020 in “Benha Veterinary Medical Journal” Sheep with skin diseases often have lower levels of certain trace elements and vitamin A, and higher oxidative stress and immunoglobulin E levels.
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.
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.
103 citations,
January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice” Using old drugs for new uses can help treat rare immune deficiencies.