April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
3 citations
,
February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
1 citations
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February 2020 in “Journal of the Canadian Association of Gastroenterology” An 8-year-old boy developed a rare condition after a liver transplant, which improved after changing his medication.
April 2023 in “Journal of Investigative Dermatology” Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
7 citations
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February 2014 in “Talanta” Researchers developed a method to identify and analyze cyclosporin compounds and their structures effectively.
8 citations
,
February 2024 in “Matrix Biology”
1 citations
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January 2012 in “Journal of Toxicologic Pathology” A rat had a cyst similar to a hair follicle structure.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
July 2022 in “International journal of surgery science” An elderly man had a rare, large skin cyst on his lower back, which was removed by surgery.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
12 citations
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December 2011 in “Journal of Dermatological Science” The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
April 2023 in “Journal of Investigative Dermatology” Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
31 citations
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January 2007 in “Journal of the American Academy of Dermatology” A rare skin growth was successfully removed without recurrence after one year.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
CCC1 is essential for ion balance and proper plant cell function.
May 2025 in “Journal of Inflammation Research” A combination of ixekizumab and tofacitinib successfully treated severe scalp cellulitis, leading to hair regrowth.
9 citations
,
August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
September 2023 in “Journal of the American Academy of Dermatology” The cosmetic product improved melasma and skin quality without causing irritation.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
16 citations
,
December 2006 in “International Journal of Dermatology” A woman died from cancer that spread from a long-standing cyst on her abdomen.
9 citations
,
October 2017 in “Frontiers in plant science” The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.
19 citations
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September 2010 in “Journal of the European Academy of Dermatology and Venereology” The CLASI is useful but needs revision to accurately assess all cutaneous lupus erythematosus subtypes.
Mutations in specific genes cause different types of ectodermal dysplasias.