10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
5 citations,
January 2015 in “Current problems in dermatology” The document provides a practical guide for diagnosing and treating various types of hair loss.
91 citations,
December 2000 in “The journal of cell biology/The Journal of cell biology” Scientists successfully created mouse hair proteins in the lab, which are stable and similar to natural hair.
41 citations,
June 2018 in “Medicine Health Care and Philosophy” The article suggests using four questions to tell apart necessary medicalization from excessive medicalization, focusing on problem significance, social expectations, medical understanding, and effective resolution.
16 citations,
July 2012 in “Current pharmaceutical biotechnology” New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
1 citations,
January 2024 in “Journal of the American Academy of Dermatology” COVID-19 vaccines have been linked to an increase in hair loss conditions.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
26 citations,
August 2006 in “Journal of Clinical Pharmacy and Therapeutics” Some patients lost hair after being treated with the drug enoxaparin for a brain vein clot.
July 2002 in “Australasian Journal of Dermatology” A woman with lupus had hair loss and skin issues that were successfully treated with medications.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
11 citations,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
11 citations,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
2 citations,
August 2021 in “Skin appendage disorders” White piedra is a rare hair infection treated with oral and topical antifungals.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
April 2020 in “The FASEB Journal” Testosterone increases heart and blood pressure issues in rats with endotoxemia, and stopping testosterone production can reduce these problems.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
Controlling Tslp can improve health in AEC syndrome patients.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
17 citations,
June 2017 in “British Journal of Dermatology” The article concludes that hair loss is a common side effect of drugs treating skin cancer by blocking the hedgehog pathway, but treatment should continue, and more selective drugs might prevent this side effect.
13 citations,
July 2018 in “General and comparative endocrinology” Thyroid hormones and androgens affect gene expression in frog reproductive organs differently between males and females.
8 citations,
May 2013 in “Journal of Investigative Dermatology” Different problems with hair stem cell renewal can lead to hair loss.
4 citations,
October 2007 in “Dermatologic Clinics” Glucocorticoids and sex hormones affect skin health, with potential for targeted treatments to minimize side effects and treat skin conditions.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
71 citations,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
48 citations,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
33 citations,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.