20 citations,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
1 citations,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
15 citations,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
5 citations,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
5 citations,
March 2013 in “BMJ case reports” Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
38 citations,
October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
22 citations,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
5 citations,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
4 citations,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
July 2023 in “The Egyptian Journal of Hospital Medicine ” Alopecia areata is a hair loss condition caused by immune factors and can be treated with JAK inhibitors.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
291 citations,
January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
42 citations,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
January 2023 in “Brazilian Journals Editora eBooks” The document concludes that Passiflora incarnata may help with anxiety, healthcare workers need mental support, common bacteria cause hospital UTIs, telehealth for heart failure needs research, kids' screen time has increased, pregnant teens are mostly okay with their body image, diagnosing post-surgery tuberculosis is hard, older and severely ill people are more likely to have long COVID symptoms, and psychiatrists should be part of pain management teams.
January 2023 in “Brazilian Journals Editora eBooks” Passiflora incarnata may help with anxiety and sleep issues but has side effects; teleconsultation for heart failure can improve quality of life; increased screen time for children during the pandemic led to more clinical complaints; older and severely affected COVID-19 patients are more likely to have long-term symptoms.
November 2020 in “Elsevier eBooks” Antiandrogens and androgen inhibitors like spironolactone, finasteride, and dutasteride can treat hair loss and skin conditions, but they have risks and side effects, including potential harm to pregnant women and risks of cancer and heart issues. Herbal remedies also have antiandrogenic effects but lack safety validation.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
989 citations,
August 2007 in “The Lancet” PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.