March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
26 citations,
March 2012 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
2 citations,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
2 citations,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
245 citations,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
25 citations,
November 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
20 citations,
September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
63 citations,
June 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
3 citations,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
45 citations,
November 2021 in “Fertility and Sterility” The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
231 citations,
October 1999 in “Journal of Clinical Investigation” Activating the Sonic hedgehog gene in mice can start the hair growth phase.
September 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
182 citations,
August 2018 in “Molecular Aspects of Medicine” The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
38 citations,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
18 citations,
June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
17 citations,
May 1998 in “Steroids” Researchers developed a model to predict how well certain compounds can block an enzyme related to hair loss and prostate issues, suggesting a 50 mg dose of finasteride might be effective based on lab and body data.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
5 citations,
April 2013 in “Nasza Dermatologia Online” Oral zinc therapy is effective for treating acrodermatitis enteropathica.