Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.
Br J Dermatol
; 179(3): 662-668, 2018 09.
Article
en En
| MEDLINE
| ID: mdl-29569226
ABSTRACT
BACKGROUND:
Germline 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.OBJECTIVES:
To search for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations.METHODS:
A 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.RESULTS:
Four 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.CONCLUSIONS:
Pulmonary 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
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Síndromes Neoplásicos Hereditarios
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Portador Sano
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Disnea
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Enzima Desubiquitinante CYLD
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Neoplasias Pulmonares
Tipo de estudio:
Observational_studies
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Risk_factors_studies
Límite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Br J Dermatol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Reino Unido