100 citations
,
March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
April 2012 in “Journal of the American Academy of Dermatology” Clofazimine successfully treated a man's ashy dermatosis, clearing his skin lesions.
20 citations
,
April 2014 in “Dermatologic Therapy” Sulfotransferase in hair follicles helps predict how well minoxidil works for female hair loss.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
1 citations
,
October 2022 in “The American Journal of Gastroenterology” Chronic arsenic exposure can cause liver damage and other health issues.
6 citations
,
June 1976 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
6 citations
,
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.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
1 citations
,
May 2025 in “The Journal of Rheumatology” A fungus ball in the lung can cause coughing up blood in SLE patients.
3 citations
,
November 2024 in “Clinical Research” Deuruxolitinib is FDA-approved for treating severe alopecia areata.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.
February 2012 in “World Allergy Organization Journal” Alopecia can be a symptom of Neonatal Lupus.
12 citations
,
February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
174 citations
,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
Deuruxolitinib is approved to treat severe alopecia areata in adults.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
September 2025 in “Asian journal of pediatric dermatology.” Abrocitinib helped a 14-year-old girl with severe alopecia areata regrow her hair significantly.
August 2022 in “Acta dermato-venereologica” Propylthiouracil can cause hair loss, reduced sweating, and nail issues, but stopping the drug can reverse hair and nail problems.
28 citations
,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
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.
3 citations
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April 2015 in “Current problems in dermatology” A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.