175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Anemia in pregnant women is linked to being younger, having lower income, and drinking coffee, while regular check-ups and age reduce risk.
Adequate vitamin D might lower, and high hair chromium might increase DNA damage in obese women.
March 2016 in “International Journal of Infectious Diseases” Peginterferon alpha-2a effectively treats acute hepatitis C in hemodialysed patients, despite some side effects.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
February 2024 in “Journal of ayurveda and integrated medical sciences” Ayurvedic medicine helped increase a young woman's hemoglobin levels and improved her anemia symptoms.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
14 citations
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January 1984 in “Nutrition reports international” 37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
2 citations
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December 2016 in “Journal of Pakistan Association of Dermatology” Almost 40% of women aged 20-70 in Isfahan had hair loss, with it being more severe in those with low ferritin levels.
10 citations
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September 2014 in “European Journal of Dermatology” A woman's hair loss worsened after starting hepatitis C treatment due to immune changes in her hair follicles.
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.
December 2013 in “대한피부과학회지” Korean women with female pattern hair loss have higher levels of ferritin, testosterone, and vitamin D than average.
1 citations
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February 2022 in “Case reports in endocrinology” An unusual growth of Leydig cells in a woman's ovaries caused her excessive hair growth, which was treated successfully with surgery.
1 citations
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July 2023 in “Frontiers in Immunology” Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
Imbalances in metals and proteins may help understand and treat bipolar disorder and schizophrenia.
8 citations
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August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.