7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
2 citations,
August 1994 in “Archives of dermatology” A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
43 citations,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
40 citations,
January 2010 in “International Journal of Trichology” Loose Anagen Syndrome is a hair condition where hairs can be easily pulled out, mainly affecting young girls, and may improve on its own or with treatment.
20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
8 citations,
December 1981 in “Journal of The American Academy of Dermatology” The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
7 citations,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
3 citations,
July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
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.
1 citations,
May 1965 in “Medical Clinics of North America” Hair growth dysfunction involves various conditions with limited treatment options.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
532 citations,
August 2011 in “Journal of the American Academy of Dermatology” Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
126 citations,
January 1987 in “Journal of The American Academy of Dermatology” The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
57 citations,
July 2005 in “Genetics” Key genes are crucial for Drosophila wing development and could be insecticide targets.
49 citations,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
37 citations,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
33 citations,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
29 citations,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
25 citations,
January 2013 in “International Journal of Trichology” Premature balding in some men may be linked to altered hormones, but it's not the male equivalent to polycystic ovary syndrome or metabolic syndrome.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
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,
January 2012 in “Lupus” NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
8 citations,
January 1996 in “Springer eBooks” Male pattern baldness may be caused by factors like poor blood circulation, scalp tension, stress, and hormonal imbalances, but the exact causes are still unclear.
8 citations,
March 1979 in “International Journal of Dermatology” Dr. Vera H. Price's 1979 work emphasizes the importance of accurate diagnosis and personalized treatment for hair loss.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.