October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
351 citations
,
February 2010 in “Nature Cell Biology” Basal cell carcinoma mostly starts from cells in the upper skin layers, not hair follicle stem cells.
93 citations
,
October 2006 in “The International Journal of Biochemistry & Cell Biology” Melanocytes are crucial for skin pigmentation and can affect conditions like melanoma, vitiligo, and albinism, as well as hair color and hearing.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
57 citations
,
February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
39 citations
,
April 2020 in “Clinical, Cosmetic and Investigational Dermatology” Asian hair is generally straight and thick, with unique disorders and properties, and more research is needed to understand it fully.
15 citations
,
April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
11 citations
,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
5 citations
,
January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
2 citations
,
January 2020 in “Skin Appendage Disorders” Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
2 citations
,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
1 citations
,
January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
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.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
1 citations
,
February 2009 in “Clinical Genetics” New genes linked to male pattern baldness were found on chromosome 20p11.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.