7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
November 2022 in “Journal of the Endocrine Society” A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
1 citations
,
October 2012 in “The Journal of Dermatology” A Korean girl developed kinky hair without known cause or effective treatment.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
2 citations
,
April 2021 in “Reproductive health of woman” Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
3 citations
,
February 2018 in “Journal of evolution of medical and dental sciences” Some ovarian tumors can cause masculinization, and it's important to check for various causes when this symptom is present.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
84 citations
,
June 1970 in “Journal of Investigative Dermatology”
120 citations
,
June 2008 in “American Journal of Epidemiology” A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
2 citations
,
July 2012 in “Journal of Pediatric and Adolescent Gynecology” A 12-year-old girl with very high testosterone and insulin resistance improved with birth control pills, suggesting PCOS can cause high testosterone without tumors.
April 2021 in “Interciencia médica” PCOS is a common condition in women that causes various symptoms and health issues, treatable with lifestyle changes and medication.
16 citations
,
September 2016 in “Neuropharmacology” Activating TSPO helps protect the retina from damage caused by high eye pressure in glaucoma.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
1744 citations
,
August 2006 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
50 citations
,
February 2007 in “Clinical obstetrics and gynecology” Early detection and treatment of PCOS in teenagers is important to manage symptoms and prevent severe issues.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
July 2023 in “Journal of Controversies in Obstetrics & Gynecology and Pediatrics” Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.
55 citations
,
May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
December 2022 in “BioScientific review” PCOS is a hormonal disorder in women that can cause infertility and increases the risk of heart and metabolic issues.