32 citations
,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
67 citations
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September 2008 in “Dermatologic therapy” Hirsutism is excessive hair growth in women often caused by polycystic ovarian syndrome, and identifying the cause is important for managing associated health risks.
September 2025 in “Journal of Dhaka Medical College” Lower vitamin D levels are linked to more severe alopecia areata.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
49 citations
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January 2009 in “The Journal of Clinical Endocrinology & Metabolism” DHEA treatment helps grow pubic hair and boosts mood in girls with adrenal issues.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
54 citations
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January 2007 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D receptor is essential for hair growth and preventing hair loss.
50 citations
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August 1985 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” Spironolactone reduces the enzyme activity that converts testosterone to DHT, helping treat excessive hair growth in women.
7 citations
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October 2019 in “Case reports in endocrinology” A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 55 citations
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May 1985 in “Archives of Dermatology” Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
October 2016 in “Letters in Drug Design & Discovery”
October 2024 in “Journal of the Endocrine Society” Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
8 citations
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May 2020 in “Arthritis research & therapy” DHT inhibition may increase spinal bone growth in ankylosing spondylitis.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
June 2002 in “Current obstetrics and gynaecology/Current obstetrics & gynaecology” Hirsutism, excessive hair growth in women, often caused by high androgen levels and polycystic ovary syndrome, can be treated with medication and weight management.
September 2021 in “Journal of pharmaceutical research international” The conclusion is that hirsutism is strongly linked to PCOS and higher levels of certain hormones, but not to DHEAS, prolactin, cortisol, or TSH.
20 citations
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December 2011 in “Journal of inherited metabolic disease” Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.