July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
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.
6 citations,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
12 citations,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
December 2016 in “John Wiley & Sons, Ltd eBooks” The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
3 citations,
October 1982 in “Postgraduate Medicine” Most types of hair loss can regrow naturally, but there are no effective cures for male pattern or age-related hair loss, and only limited options for females.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
2 citations,
January 2014 in “Hair therapy & transplantation” New treatments for hair growth disorders are needed due to limited current options and complex hair follicle biology.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
9 citations,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
191 citations,
May 2018 in “British journal of dermatology/British journal of dermatology, Supplement” Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
10 citations,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” Hair changes can indicate systemic diseases or medication effects.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
8 citations,
January 2020 in “Plastic and Aesthetic Nursing” The article concludes that different types of hair loss require specific treatments and psychological support is important.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
18 citations,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
82 citations,
April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
4025 citations,
December 2003 in “Human Reproduction” The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.