May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
2 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
January 2017 in “Springer eBooks” August 2005 in “The Journal of Cell Biology” Sgk3 kinase is essential for normal hair growth in mice.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
November 2025 in “Practical Neurology” Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.
August 2022 in “Dermatologic Therapy”
February 2025 in “Infectious Diseases & Immunity” HHV-6 reactivation may be linked to psychiatric disorders and can improve with antiviral treatment.
July 2025 in “Pediatric Transplantation” This document reports a case of trichodysplasia spinulosa (TS), a rare skin infection caused by a polyomavirus, in a 10-year-old girl who had a kidney transplant. The condition, which can be mistaken for other skin issues, was confirmed through a skin biopsy. Treatment involved reducing immunosuppression and administering leflunomide and valganciclovir, leading to successful management of TS without graft rejection. The case underscores the rarity of TS in pediatric transplant recipients and the challenges in treatment, noting that the specific role of valganciclovir remains unclear.
1 citations
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March 2023 in “Aggregate” A new hydrogel with micronized amnion helps achieve better, scar-free skin healing.
15 citations
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January 2019 in “Journal of the Formosan Medical Association” Adalimumab helped control a child's severe eye disease when other treatments failed.
1 citations
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September 2022 in “F1000Research” Digital gangrene can be an initial symptom of late-onset systemic lupus erythematosus.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
2 citations
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January 2014 in “Photochemical & photobiological sciences” Grasp protein helps maintain skin health after UVB exposure.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
13 citations
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January 2012 in “Dermatology” Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
October 2002 in “Dermatologic Surgery” January 2024 in “Skin Appendage Disorders”
July 2016 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
April 2023 in “Journal of Investigative Dermatology” Injecting anti-herpes antibodies locally can prevent skin lesions and sweating problems caused by herpes simplex virus in mice.
April 2023 in “Research Square (Research Square)” Combining stromal vascular fraction (SVF) injections with fractional CO2 laser treatment is more effective for treating burn scars than using the laser alone.
April 2024 in “Canadian Journal of Ophthalmology” A woman with advanced eye cancer went into complete remission using a combination of immunotherapy and topical treatments.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
1 citations
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July 2025 in “Journal of Investigative Dermatology” 27 citations
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May 2011 in “Current Opinion in Ophthalmology” New treatments using stem cells and special materials show promise for severe eye surface disease.