May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
4 citations
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August 2021 in “Pediatric dermatology” Biotin, alone or with minoxidil, effectively treats short anagen syndrome.
3 citations
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April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
January 2026 in “Beilstein Journal of Organic Chemistry” A new, efficient method creates sulfinimidate esters from sulfenamides and alcohols without metals.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
12 citations
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May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
October 2009 in “Reactions Weekly” A woman developed lupus after taking hydroxyurea for two years.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
2 citations
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May 2025 in “Frontiers in Immunology” Ursolic acid may help develop new anti-inflammatory drugs by affecting immune cells.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
16 citations
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November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
November 2022 in “Journal of the Endocrine Society” Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
2 citations
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January 2016 in “Journal of clinical & experimental dermatology research” Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
PNH can occur in patients with SLE, so doctors should be aware of this.
2 citations
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January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
April 2021 in “Research Square (Research Square)” N-acetylcysteine improved symptoms of trichotillomania and bulimia.
February 2023 in “Indian journal of private psychiatry/Indian Journal of Private Psychiatry” Valproic acid can rarely cause reversible nail discoloration.