44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
57 citations
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February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
January 2012 in “Journal of Investigative Dermatology” The document presented various studies on hair and cutaneous development, revealing insights into hair biology and potential therapeutic targets for hair-related conditions. Key findings included the role of stem cells and their niches in hair regeneration, the impact of TACE/ADAM17 depletion on alopecia, and the expression of somatostatin in hair follicles. Research on genetic factors, such as CYLD mutants and P-cadherin, highlighted their importance in hair growth and pigmentation. Studies on hair aging identified genes involved in hair loss in women over 40. Additionally, the potential of keratinocyte precursors from iPS cells for hair follicle regeneration and the effectiveness of a parathyroid hormone analog in reversing chemotherapy-induced alopecia were explored. The document also discussed the role of cholesterol biosynthesis in cicatricial alopecia, the necessity of Wnt signaling for hair follicle initiation, and the effects of ATP-sensitive potassium channel blockers on hair growth. These findings collectively advanced the understanding of hair growth, alopecia treatment, and skin regeneration.
July 2003 in “British Journal of Dermatology” This summary presents papers from the British Society for Dermatopathology but does not report new scientific findings or results.
5 citations
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August 2014 in “Australasian journal of dermatology” This article discusses a case of delayed onset perforating folliculitis linked to the use of sorafenib, but it reports no new clinical results.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
16 citations
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July 2021 in “Histopathology” This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.
479 citations
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January 2005 in “BioEssays” This review introduces the morphological and molecular principles of hair follicle development but reports no new experimental results, focusing on recent insights and forming a working hypothesis.
120 citations
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February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
82 citations
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October 2019 in “Frontiers in Immunology” This review discusses the features of regulatory T cells and the modulation of Foxp3, emphasizing post-translational modifications' impact on Treg function but reports no new clinical results.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
44 citations
,
September 2014 in “Cell Death & Differentiation” This review discusses the role of tumor suppressors in controlling tumor-associated inflammation and suggests that targeting this inflammation may counteract the effects of tumor suppressor loss.
25 citations
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September 2014 in “Biological Research” This study found that arctiin, a compound from Arctium lappa, demonstrated protective effects against oxidative stress-induced dysfunction in human hair dermal papilla cells, suggesting potential therapeutic use for alopecia.
22 citations
,
April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
18 citations
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July 2014 in “Molecular Medicine Reports” This study found that UVB radiation significantly alters miRNA expression and induces cytotoxicity and apoptosis in normal human dermal papilla cells.
13 citations
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May 2022 in “Cell discovery” This study used single-cell RNA sequencing to create a detailed atlas of human scalp hair follicles and found that early-stage hair graying involves matrix hair progenitor depletion linked to P53 pathway activation.
12 citations
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May 2015 in “Molecular Medicine Reports” This study demonstrated that troxerutin may protect human dermal papilla cells from H2O2-induced damage and suggests potential in treating alopecia by inhibiting ROS-mediated cellular damage.
12 citations
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April 2014 in “Molecular Medicine Reports” In this study, transcriptome analysis identified 68 differentially expressed miRNAs in human dermal papilla cells treated with hydrogen peroxide, suggesting they play a significant role in growth arrest and apoptosis.
7 citations
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March 2017 in “Journal of dermatology” This review outlines the clinical and histopathological features that aid in classifying tumors arising from the folliculosebaceous apparatus and reports no new research results.
7 citations
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March 2013 in “British Journal of Dermatology” No genetic link between prostaglandins and hair loss found.