7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
83 citations
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May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
The C-CAT tool helps assess and improve treatment for central centrifugal cicatricial alopecia.
12 citations
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February 2013 in “The Open Stem Cell Journal” DPSCs and SHED have great potential for medical treatments and tissue repair.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
16 citations
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January 1995 in “Dermatology” The treatment for alopecia areata with diphenylcyclopropenone was unsuccessful.
May 2011 in “Value in Health” CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
4 citations
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December 2020 in “Neuropsychiatric Disease and Treatment” Women with skin conditions who have body image concerns often experience mental health issues and a lower quality of life.
September 2019 in “Journal of Investigative Dermatology” The 3D-SeboSkin model effectively simulates Hidradenitis suppurativa and is useful for future research.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
54 citations
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
20 citations
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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.
4 citations
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November 2021 in “Frontiers in endocrinology” Children and adults with Cushing's disease show different symptoms and males have more severe cases; surgery outcomes can be predicted by certain factors.
9 citations
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January 2019 in “Skin appendage disorders” Researchers found a new sign of fungal infection in some patients with Seborrheic Dermatitis.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
1 citations
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January 2014 in “Journal of Cosmetics, Dermatological Sciences and Applications” The document's conclusion cannot be provided because the content is not available to parse.
13 citations
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July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
31 citations
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March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
July 2015 in “Actas Dermo-Sifiliográficas” A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
October 2012 in “Sax's Dangerous Properties of Industrial Materials”
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
35 citations
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January 2008 in “American Journal of Clinical Dermatology” KFSD can be linked to acne keloidalis nuchae and tufted hair folliculitis.
The document's conclusion cannot be provided because the document is not accessible or understandable.
9 citations
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July 2020 in “JAMA dermatology” Dermatoscopy can help diagnose CCCA without visible hair loss, offering a less invasive option than biopsy.
25 citations
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November 2015 in “Journal of Dermatological Science” Sebum helps protect human skin from microbes.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
88 citations
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August 2019 in “Nature communications” Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.