100 citations,
June 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
October 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
38 citations,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
32 citations,
October 2017 in “Journal of the American Academy of Dermatology” Oral isotretinoin effectively treats yellow facial papules in frontal fibrosing alopecia patients.
31 citations,
September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
15 citations,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
5 citations,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
1 citations,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
November 1983 in “American Biology Teacher” Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
166 citations,
November 2012 in “Journal of The American Academy of Dermatology” Mostly postmenopausal Caucasian women get Frontal Fibrosing Alopecia, which often includes eyebrow loss and has limited treatment success.
65 citations,
November 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
64 citations,
July 2009 in “Journal of The American Academy of Dermatology” Oral dutasteride can potentially treat frontal fibrosing alopecia in postmenopausal women, with some patients showing disease arrest and hair regrowth.
43 citations,
November 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
33 citations,
January 2010 in “Case reports in dermatology” Dermoscopy helps diagnose frontal fibrosing alopecia by distinguishing it from other hair loss conditions.
27 citations,
September 1988 in “PubMed” Hair follicle shape determines hair type: curly, straight, or in-between.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
11 citations,
September 2012 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
9 citations,
January 2018 in “Journal of the European Academy of Dermatology and Venereology” A male patient developed frontal fibrosing alopecia after antiandrogen therapy for prostate cancer.
6 citations,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
5 citations,
August 2019 in “Journal of The American Academy of Dermatology” Frontal Fibrosing Alopecia may be a complex condition linked to hormonal changes in women, not just a form of Lichen Planopilaris.
5 citations,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
4 citations,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations,
September 2021 in “JAAD Case Reports” Trichoscopy of the beard is useful for diagnosing frontal fibrosing alopecia in men.
2 citations,
July 1999 in “International Journal of Clinical Practice” Common baldness treatments include cosmetic methods, medication like minoxidil, and surgery, but no cure exists.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.