74 citations
,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
January 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
5 citations
,
November 2008 in “Advances in Dermatology” The review highlights the importance of stem cells in hair health and suggests new treatment strategies for hair loss conditions.
30 citations
,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
2 citations
,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
29 citations
,
January 2007 in “American Journal of Clinical Dermatology” Eyebrow loss has many causes and requires accurate diagnosis for proper treatment.
38 citations
,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
11 citations
,
January 2000 in “Journal of Cutaneous Pathology” Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
5 citations
,
December 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
19 citations
,
January 2015 in “Current problems in dermatology” Ultraviolet rays damage hair, smoking may cause hair loss, and good nutrition is important for hair health, but genetics mainly decide hair thickness.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
3 citations
,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
2 citations
,
November 2004 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
101 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
1 citations
,
November 2014 The document explains hair and nail biology, common hair loss conditions and treatments, oral and genital skin diseases, and the risks and treatments associated with squamous cell carcinoma.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
September 2018 in “Journal of the American Academy of Dermatology” Patients often experience long-lasting changes to their hair after stem cell transplants.
97 citations
,
April 2016 in “Andrology” Hormones and metabolism play a complex role in prostate enlargement, and more research is needed to improve diagnosis and treatment.
54 citations
,
May 1998 in “Urology” Men with enlarged prostates often have more severe baldness.
22 citations
,
September 2011 in “Endocrine Practice” Most hirsutism cases are due to PCOS, and treatment focuses on lowering testosterone and blocking its effects.