April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
February 2026 in “Pediatric Dermatology” 6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
23 citations
,
August 1987 in “PubMed” The ferret had hyperadrenocorticism and other health issues like heart, liver, and kidney problems.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
3 citations
,
May 1964 in “Nature”
December 2022 in “Archives of Clinical Trials” Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
5 citations
,
February 2022 in “Supportive Care in Cancer” Older age is the main risk factor for hemorrhagic cystitis after stem cell transplants.
31 citations
,
December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
8 citations
,
January 2016 in “Journal of fiber science and technology” Bleaching hair increases cysteic acid levels in a predictable way.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
28 citations
,
March 1986 in “The American journal of medicine” Too much vitamin A can cause liver damage and skin issues.
4 citations
,
December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
January 2023 in “Side effects of drugs annual” Some vitamins, amino acids, and alternative medicines can cause serious side effects, including bone, muscle, and skin issues, and healthcare professionals should be aware of these risks.
6 citations
,
December 2022 in “International Journal of Molecular Sciences” Hormone imbalance is linked to Hidradenitis Suppurativa, a skin condition, and treatments like anti-androgenic therapy and metformin can help. It's also suggested to check patients for insulin resistance and Polycystic Ovary Syndrome.
3 citations
,
January 1995 in “PubMed” Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
1 citations
,
July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
26 citations
,
April 2007 in “Journal of pediatric gastroenterology and nutrition” A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
3 citations
,
April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.