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INTRODUCTION: Diffuse cystic lung disease (DCLD) represents a heterogeneous group of conditions, typically characterized by the presence of multiple thin-walled, predominantly round parenchymal lucencies. The increased accessibility of computed tomography (CT) underscores the growing relevance of a relatively rare group of diseases as more clinicians are confronted with the presence of multiple lung cysts on the chest CT scan. Although the etiology of these conditions is very diverse, the focus of the differential diagnosis revolves around four primary causative factors - Lymphangioleiomyomatosis (LAM), Pulmonary Langerhanscell histiocytosis (PLCH), Birt-Hogg-Dubé (BHD) and lymphoid interstitial pneumonia (LIP). Achieving an accurate diagnosis poses a challenge and typically necessitates lung biopsies; however, it is crucial for ensuring proper management.
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Tomografía Computarizada por Rayos X , Humanos , Diagnóstico Diferencial , Linfangioleiomiomatosis/diagnóstico , Linfangioleiomiomatosis/terapia , Histiocitosis de Células de Langerhans/diagnóstico , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/etiología , Pulmón/diagnóstico por imagen , Pulmón/patología , Biopsia , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/complicaciones , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/diagnóstico , Quistes/diagnóstico , Quistes/diagnóstico por imagenRESUMEN
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant syndrome with different skin, lung, and renal manifestations. It is diagnosed commonly in the third decade of life, and patients have an increased risk for pneumothorax and renal carcinomas. METHODS: Articles published in PubMed, and Medline from 1977 to September 2023, were included in the systematic review. Inclusion criteria were applied to case reports, case series, and a retrospective cohort study, describing clinical, histopathological, and genetic findings in patients with BHDS with oral and/or parotid lesions. RESULTS: Sixteen families/individuals with BHDS were identified for analysis. Patients ranged in age from 20 to 74 years, with an average of 49.4 years. Males were affected 52.2% of the time and females, 39.1%. Skin fibrofolliculomas were reported in 87% of cases, and oral lesions were documented in 47.8%. Parotid tumors were documented in 43.5% of patients, 30.4% of which were oncocytomas, 4.3% bilateral oncocytomas, and 4.3% "oncocytic carcinoma". CONCLUSIONS: Because BHDS is uncommon, its spectrum of clinical manifestations may be underrecognized, especially as the disease is mostly reported at advanced stage. And some of the patients with BHDS may have oncocytic parotid tumors and oral lesions. In this regard, patients presenting these lesions and other indications of BHDS should be considered for renal screening.
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Síndrome de Birt-Hogg-Dubé , Neoplasias de las Glándulas Salivales , Humanos , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/patología , Síndrome de Birt-Hogg-Dubé/complicaciones , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Persona de Mediana Edad , Adulto , Masculino , Femenino , Anciano , Adulto JovenAsunto(s)
Síndrome de Birt-Hogg-Dubé , Humanos , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/complicaciones , Síndrome de Birt-Hogg-Dubé/patología , Síndrome de Birt-Hogg-Dubé/diagnóstico , Femenino , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/genética , Proteínas Supresoras de Tumor/genética , Adulto , Proteínas Proto-Oncogénicas/genéticaAsunto(s)
Síndrome de Birt-Hogg-Dubé , Mutación , Proteínas Proto-Oncogénicas , Proteínas Supresoras de Tumor , Humanos , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/complicaciones , Proteínas Proto-Oncogénicas/genética , Masculino , Proteínas Supresoras de Tumor/genética , Femenino , Adulto , Persona de Mediana EdadRESUMEN
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Humanos , Femenino , Adulto , Neoplasias de la Tiroides/complicaciones , Carcinoma Medular/complicaciones , Síndrome de Birt-Hogg-Dubé/complicaciones , Enfermedades Genéticas Congénitas/diagnósticoRESUMEN
No disponible
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Humanos , Masculino , Persona de Mediana Edad , Neoplasias Faciales/complicaciones , Neoplasias Faciales/diagnóstico , Neoplasias Nasales/complicaciones , Neoplasias Nasales/diagnóstico , Eliminación de Gen , Síndrome de Birt-Hogg-Dubé/complicaciones , Síndrome de Birt-Hogg-Dubé/diagnóstico , Linfoma de Burkitt/complicaciones , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Escamosas/complicaciones , Adenocarcinoma Folicular/complicaciones , Neoplasias Renales/complicaciones , Neumotórax/complicacionesRESUMEN
El síndrome de Birt-Hogg-Dubé (SBHD) es una rara genodermatosis de herencia autosómica dominante caracterizada esencialmente por la presencia de fibrofoliculomas y/o tricodiscomas, quistes pulmonares, neumotórax espontáneos y cánceres renales, siendo los tipos histológicos más frecuentes las formas híbridas de oncocitoma y carcinoma cromófobo o formas puras de carcinoma cromófobo, oncocítico, de células claras o papilar. El gen implicado en este síndrome, FLCN, codifica la foliculina, que se expresa preferentemente a nivel cutáneo, renal y pulmonar. Este síndrome puede presentarse con una gran variabilidad clínica, y las lesiones cutáneas que son el signo de alarma para los dermatólogos pueden estar ausentes hasta en un 70% de los casos. Así, aunque las lesiones cutáneas son, junto con las mutaciones del gen FLCN, los criterios mayores para el diagnóstico del SBHD, este diagnóstico es posible incluso cuando no existe confirmación histológica de fibrofoliculomas o tricodiscomas, por las mencionadas manifestaciones extracutáneas, con o sin antecedentes familiares conocidos (AU)
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The most common histological types found in renal tumors from patients with the syndrome are oncocytoma-chromophobe carcinoma hybrids and pure forms of chromophobe carcinoma, oncocytic carcinoma, and clear cell or papillary cell carcinoma. The syndrome is linked to mutations in the FLCN gene, which encodes folliculin and is preferentially expressed in the skin, kidney, and lung. The syndrome can exhibit a high degree of clinical variability, and the skin lesions that are a warning sign for dermatologists may be absent in up to 70% of cases. Consequently, although skin lesions and mutations in FLCN are the main diagnostic criteria for Birt-Hogg-Dubé syndrome, a diagnosis can be made based on noncutaneous manifestations, with or without known family history of the syndrome, even in the absence of histological confirmation of fibrofolliculomas or trichodiscomas (AU)