January 2009 in “Springer eBooks” The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
June 2008 in “British Journal of Dermatology” UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
November 2004 in “John Wiley & Sons, Ltd eBooks” Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.
5 citations,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
18 citations,
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,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
49 citations,
March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations,
June 2023 in “Genes” Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
1 citations,
January 2022 in “Springer eBooks” March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
46 citations,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
23 citations,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
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.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
January 2022 in “IntechOpen eBooks” Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
May 2024 in “European Journal of Immunology” Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
3 citations,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
1 citations,
December 2023 in “International journal of molecular sciences” miR-199a-3p controls hair growth and is linked to alopecia areata.