August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
8 citations
,
January 2016 in “Journal of fiber science and technology” Bleaching hair increases cysteic acid levels in a predictable way.
15 citations
,
May 1966 in “The Journal of Urology” A woman developed severe bladder inflammation after cancer treatment with Cytoxan.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
41 citations
,
March 2007 in “Journal of dermatological science” Taking L-cystine and vitamin B6 can prevent hair loss caused by smoke in mice.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
7 citations
,
June 2021 in “Amino acids” Human hair protein modifications could potentially indicate heart disease risk.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
January 2026 in “Molecules” A new perming method is less damaging to hair and works as well as traditional methods.
3 citations
,
April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
4 citations
,
December 2018 in “Macedonian Journal of Chemistry and Chemical Engineering” A new method accurately measures amino acids in treated hair, showing bleaching reduces amino acids while protein treatments increase them.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
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.
88 citations
,
July 1958 in “Nature” Citrulline was found in hair follicle proteins for the first time.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
26 citations
,
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.
7 citations
,
June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
22 citations
,
November 2014 in “Proteins Structure Function and Bioinformatics” Cysteines in wool fibers are accessible and form important disulfide bonds.
5 citations
,
April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
20 citations
,
February 1968 in “Journal of Histochemistry & Cytochemistry” A new test more accurately detects citrulline in hair follicles and pilomatrixomas.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
4 citations
,
October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
56 citations
,
October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
51 citations
,
January 2004 in “European Journal of Cell Biology” Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.