26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
2 citations
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June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
May 2006 in “Women's Health Medicine” Excessive hair growth in women, often from high androgen levels, is usually caused by PCOS, and can be treated with hair removal, medication, and possibly weight loss.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
19 citations
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August 2018 in “JAMA dermatology” Mesenchymal stem cells in people with Hidradenitis Suppurativa are more inflammatory, possibly contributing to the disease.
8 citations
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August 1997 in “Australasian Journal of Dermatology” Most HIV patients develop skin symptoms that can indicate the stage of their disease.
4 citations
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April 2008 in “Experimental Dermatology” Nicotine from smoking may worsen hidradenitis suppurativa by affecting immune function and promoting inflammation.
1 citations
,
October 2024 in “Journal of Clinical Immunology” Vaccines work well in Netherton syndrome patients, similar to healthy people.
2 citations
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July 2016 in “Veterinary dermatology” Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
May 2021 in “Journal of the Endocrine Society” The patient's hypothyroidism improved with medication adjustments and careful management.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
46 citations
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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.
May 2019 in “The Journal of Sexual Medicine” Flibanserin's effectiveness for low sexual desire in premenopausal women may vary based on hormone levels, with normal hormone levels showing better responses.
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
May 2025 in “International Journal of Trichology” Hair Heat Disease is caused by wet, oily hair and friction in hot, humid conditions.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
November 2013 in “International Journal of Medical and Health Sciences” Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
87 citations
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September 2016 in “Journal of the American Academy of Dermatology” Intralesional triamcinolone effectively reduces pain and inflammation in hidradenitis suppurativa flares.
13 citations
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March 2018 in “Pediatric Dermatology” Children with short anagen syndrome usually see their hair condition improve as they get older.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.