ABSTRACT
Costello syndrome is a multisystemic congenital disorder with a very low prevalence. The pathogenesis remains unclear and predisposes to the development of tumors of ectodermal origin. Diagnosis is clinical, based on findings of mental and growth retardation and a characteristic phenotype. We report the case of a patient with Costello syndrome who was referred to our unit with a suspected diagnosis of intraductal papilloma based on the presence of various episodes of nipple discharge. Postoperative histopathological study confirmed the diagnosis of multiple intraductal papilloma. We review the literature on the topic and discuss the advisability of aggressive surgical therapy, given the predisposition of these patients to develop both benign and malignant tumors.
Subject(s)
Breast Neoplasms/complications , Breast Neoplasms/pathology , Elastic Tissue/metabolism , Intellectual Disability/complications , Laryngeal Diseases/complications , Laryngeal Diseases/metabolism , Papilloma, Intraductal/complications , Papilloma, Intraductal/pathology , Pharyngeal Diseases/complications , Pharyngeal Diseases/metabolism , Adult , Biopsy , Breast Neoplasms/surgery , Chromosomes, Human, Pair 22/genetics , Female , Humans , Laryngeal Diseases/genetics , Mastectomy , Papilloma, Intraductal/surgery , Pharyngeal Diseases/genetics , Phenotype , Point Mutation/genetics , SyndromeABSTRACT
El síndrome de Costello es una enfermedad congénita multisistémica de prevalencia muy baja, etiología todavía no aclarada y tendencia al desarrollo de tumores de origen ectodérmico. Su diagnóstico es clínico al observarse retraso mental y de crecimiento en un niño con fenotipo característico. Se presenta el caso de una paciente afectada de síndrome de Costello que acudió a nuestra unidad diagnosticada de sospecha de papiloma intraductal, tras varios episodios de telorrea. El estudio histológico postoperatorio confirmó el diagnóstico de papilomatosis intraductal. Se revisa la bibliografía y se discute acerca de la conveniencia de realizar tratamientos quirúrgicos agresivos por la tendencia de estas pacientes a las neoplasias, tanto benignas como malignas (AU)
Costello syndrome is a multisystemic congenital disorder with a very low prevalence. The pathogenesis remains unclear and predisposes to the development of tumors of ectodermal origin. Diagnosis is clinical, based on findings of mental and growth retardation and a characteristic phenotype. We report the case of a patient with Costello syndrome who was referred to our unit with a suspected diagnosis of intraductal papilloma based on the presence of various episodes of nipple discharge. Postoperative histopathological study confirmed the diagnosis of multiple intraductal papilloma. We review the literature on the topic and discuss the advisability of aggressive surgical therapy, given the predisposition of these patients to develop both benign and malignant tumors (AU)
