November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
24 citations
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January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
July 2025 in “Journal of Investigative Dermatology” 15 citations
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November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
4 citations
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March 2013 in “InTech eBooks” Confocal Laser Scanning Microscopy (CLSM) is a useful tool for studying how drugs interact with skin and diagnosing skin disorders, despite some limitations.
24 citations
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March 2022 in “Genome biology” scINSIGHT accurately identifies cell clusters and gene patterns in complex data.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
87 citations
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July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
4 citations
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June 2025 in “Cochrane Database of Systematic Reviews” No treatment is clearly better for central serous chorioretinopathy, and more research is needed.
4 citations
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January 2006 in “International Journal of Cosmetic Science” The method shows how hair lipids form specific patterns and their roles in hair structure.
5 citations
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November 2005 Confocal Laser Scanning Microscopy is effective for tracking compounds in the skin.
1 citations
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May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
64 citations
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October 2018 in “Thérapie” Enriching the French health care database with external data greatly improved its usefulness.
3 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” scINSIGHT helps understand single-cell gene expression better than current methods.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
24 citations
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January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
January 1992 in “Journal of Oriental Neuropsychiatry” People with schizophrenia have lower zinc, copper, and chromium in their hair.
1 citations
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November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
January 2022 in “Yonsei Medical Journal” Spironolactone helps reduce fluid in the eye in Central Serous Chorioretinopathy, but doesn't improve vision and recurrence is common.