ArticleThe British journal of dermatology2018
Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.
Article in The British journal of dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.International journal of dermatology · 2026Article
- Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.The British journal of dermatology · 2026Article
- Genetic Testing in CYLD Cutaneous Syndrome: An Update.The application of clinical genetics · 2021Review
- Brooke-Spiegler Syndrome With Cervical Spine Lesion.Cureus · 2020Article
- Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.Nature communications · 2019Article
- Tracking tumor kinetics in patients with germline CYLD mutations.Journal of the American Academy of Dermatology · 2018Article
- Transcriptomic profiling of human skin biopsies in the clinical trial setting: A protocol for high quality RNA extraction from skin tumours.Wellcome open research · 2018Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundGermline mutations in the tumour suppressor gene CYLD are recognized to be associated with the development of multiple cutaneous cylindromas. We encountered such a patient who presented with breathlessness because of multiple pulmonary cylindromas.
objectivesTo search for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations.
methodsA retrospective case-note review was carried out in a tertiary dermatogenetics clinic where CYLD mutation carriers are reviewed on an annual basis. In-depth investigation was carried out for patients with pulmonary tumours.
resultsFour patients had radiological imaging of their lungs, of which two had multiple pulmonary cylindromas that were confirmed histologically. Serial computed tomography monitoring allowed for pre-emptive endobronchial laser ablation, preventing major airway obstruction and pulmonary collapse.
conclusionsPulmonary cylindromas are an unrecognized, but infrequently symptomatic, aspect of the phenotype in these patients that can have implications for patient care. They should be considered in patients with a high tumour burden that present with respiratory symptoms, and where appropriate, monitored with serial imaging.
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