1 citations,
March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
46 citations,
July 1988 in “Journal of The American Academy of Dermatology” Hormone imbalances can cause specific skin changes, which may help in early detection of endocrine disorders.
1 citations,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
16 citations,
January 2006 in “The Aging Male” Hormone imbalances can cause skin diseases, and understanding these links is important for diagnosis and treatment.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
1 citations,
February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
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.
35 citations,
January 2013 in “International Journal of Trichology” Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
1 citations,
January 2019 in “Paediatrics and Child Health” The document concludes that understanding hair biology and recognizing hair conditions are crucial for managing and treating hair loss in children.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
80 citations,
April 2018 in “Trends in Molecular Medicine” Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
August 1996 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
46 citations,
December 2003 in “Advances in neonatal care” Assessing newborn scalp hair can reveal important health information.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
5 citations,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
5 citations,
July 2000 in “Southern Medical Journal” Male pattern baldness is often genetic and linked to a hormone, with treatments like finasteride and minoxidil being effective for some men.
2 citations,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
4 citations,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
3 citations,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
2 citations,
December 2021 in “International journal of Ayurveda and pharma research” Ayurvedic treatment helped reduce PCOS symptoms in a 19-year-old girl.