2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
February 2026 in “Oncology Reviews” Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
101 citations
,
August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
3 citations
,
November 2018 in “Journal of osteopathic medicine” A rare scalp condition causing hair loss improved with a specific cream.
9 citations
,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
September 2024 in “International Journal of Women’s Dermatology” Early diagnosis and thorough evaluation are crucial for better outcomes in alopecic sarcoidosis.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
16 citations
,
November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Hemoglobin α acts as an antioxidant in skin cells, especially protecting hair follicle stem cells from UV damage.
February 2025 in “The Indian Journal of Pediatrics” Siddha therapeutics successfully treated a 14-year-old's alopecia areata, leading to full hair regrowth without side effects.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
25 citations
,
January 2019 in “Annals of Dermatology” Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
2 citations
,
June 2018 in “Clinical and Experimental Dermatology” Permanent hair loss after a stem cell transplant can be a sign of chronic immune system attack on the scalp.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
3 citations
,
August 2012 in “Annals of Diagnostic Pathology” AIDS may cause changes in the scalp that increase infection risk and hair loss.