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2.
J Am Acad Dermatol ; 74(2): 231-44; quiz 245-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26775773

RESUMO

There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues. Part II reviews the inflammatory syndromes with relevant renal manifestations and therapeutic agents commonly used by dermatologists that have drug-induced effects on or require close consideration of renal function. In addition, we will likewise review therapeutic agents commonly used by nephrologists that have drug-induced effects on the skin that dermatologists are likely to encounter in clinical practice. In both parts of this continuing medical education article, we discuss diagnosis, management, and appropriate referral to our nephrology colleagues in the context of each nephrocutaneous association. There are a significant number of dermatoses associated with renal abnormalities and disease, emphasizing the need for dermatologists to be keenly aware of their presence in order to avoid overlooking important skin conditions with potentially devastating renal complications. This review discusses important nephrocutaneous disease associations with recommendations for the appropriate urgency of referral to nephrology colleagues for diagnosis, surveillance, and early management of potential renal sequelae.


Assuntos
Doenças Genéticas Inatas/genética , Nefropatias/genética , Leiomiomatose/genética , Dermatopatias/genética , Neoplasias Cutâneas/genética , Neoplasias Uterinas/genética , Doença de von Hippel-Lindau/genética , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/terapia , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/terapia , Doença de Fabry/complicações , Doença de Fabry/genética , Doença de Fabry/terapia , Doenças Genéticas Inatas/terapia , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/terapia , Humanos , Leiomiomatose/complicações , Leiomiomatose/terapia , Mutação , Síndrome da Unha-Patela/complicações , Síndrome da Unha-Patela/genética , Síndrome da Unha-Patela/terapia , Síndromes Neoplásicas Hereditárias , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Síndrome de Turner/complicações , Síndrome de Turner/genética , Síndrome de Turner/terapia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/terapia , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/terapia
3.
Int J Urol ; 23(3): 204-10, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26608100

RESUMO

Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. Recent studies using murine models for FLCN, a protein encoded by the FLCN gene, and its two binding partners, folliculin-interacting protein 1 (FNIP1) and folliculin-interacting protein 2 (FNIP2), have uncovered important roles for FLCN, FNIP1 and FNIP2 in cell metabolism, which include AMP-activated protein kinase-mediated energy sensing, Ppargc1a-driven mitochondrial oxidative phosphorylation and mTORC1-dependent cell proliferation. Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer.


Assuntos
Síndrome de Birt-Hogg-Dubé , Neoplasias Renais , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Animais , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/patologia , Síndrome de Birt-Hogg-Dubé/terapia , Proteínas de Transporte/metabolismo , Técnicas de Inativação de Genes , Humanos , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Alvo Mecanístico do Complexo 1 de Rapamicina , Camundongos , Complexos Multiproteicos/metabolismo , Mutação , Neoplasias Experimentais/genética , Neoplasias Experimentais/patologia , Neoplasias Experimentais/terapia , Nefrectomia , Proteínas Proto-Oncogênicas/metabolismo , Ratos , Sirolimo/administração & dosagem , Sirolimo/uso terapêutico , Serina-Treonina Quinases TOR/metabolismo , Proteínas Supressoras de Tumor/metabolismo
4.
Eur Respir Rev ; 24(138): 552-64, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26621970

RESUMO

Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.


Assuntos
Amiloidose , Síndrome de Birt-Hogg-Dubé , Histiocitose de Células de Langerhans , Neoplasias Pulmonares , Linfangioleiomiomatose , Pneumonia por Pneumocystis , Adulto , Amiloidose/diagnóstico , Amiloidose/epidemiologia , Amiloidose/terapia , Biópsia , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/epidemiologia , Síndrome de Birt-Hogg-Dubé/terapia , Diagnóstico Diferencial , Progressão da Doença , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/terapia , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/terapia , Linfangioleiomiomatose/diagnóstico , Linfangioleiomiomatose/epidemiologia , Linfangioleiomiomatose/terapia , Masculino , Pneumonia por Pneumocystis/diagnóstico , Pneumonia por Pneumocystis/epidemiologia , Pneumonia por Pneumocystis/terapia , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco , Tomografia Computadorizada por Raios X
5.
Respir Med ; 109(3): 289-96, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25519092

RESUMO

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein. METHODS: We reviewed currently published literature on the main characteristics of BHDS. RESULTS: Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome. CONCLUSIONS: Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.


Assuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Cisto Broncogênico/diagnóstico , Neoplasias Renais/diagnóstico , Pneumotórax/diagnóstico , Biomarcadores/metabolismo , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/terapia , Cisto Broncogênico/genética , Cisto Broncogênico/terapia , Diagnóstico Diferencial , Éxons , Humanos , Neoplasias Renais/genética , Neoplasias Renais/terapia , Mutação , Fenótipo , Pneumotórax/genética , Pneumotórax/terapia , Proteínas Proto-Oncogênicas/genética , Tomografia Computadorizada por Raios X , Proteínas Supressoras de Tumor/genética
7.
Fam Cancer ; 12(3): 397-402, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23703644

RESUMO

In addition to the associated cutaneous and pulmonary manifestations, individuals with the Birt-Hogg-Dubé (BHD) syndrome have an increased risk of developing kidney cancer, which is often bilateral and multifocal. The risk of developing a renal tumor in this population does not decrease with age and therefore warrants a lifelong screening approach. We recommend abdominal imaging every 36 months in individuals without renal lesions at initial screening. Once renal tumors are identified, they should be followed with interval imaging studies until the largest tumor reaches 3 cm in maximal diameter, at which point nephron-sparing surgery should be ideally pursued. While the histology of renal tumors can vary in the BHD syndrome, most tumors possess a relatively indolent natural history and do not require adjuvant therapy if resected when localized to the kidney. With this approach, the vast majority of patients will achieve a curative oncologic outcome and avoid the medical sequelae of chronic renal insufficiency that could otherwise result from total nephrectomy.


Assuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Neoplasias Renais/diagnóstico , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/terapia , Gerenciamento Clínico , Humanos , Neoplasias Renais/etiologia , Neoplasias Renais/terapia
8.
Hautarzt ; 63(10): 762-5, 2012 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-23052100

RESUMO

A 43-year-old man presented with white to skin-colored shiny papules on the face and neck. In addition, he had a positive family history and reported on multiple pneumothoraces. Histopathological examination revealed a papular mucinosis. Considering these findings, we made the diagnosis of Birt-Hogg-Dubé syndrome (BHDS) that was confirmed by molecular genetic analysis. This autosomal dominantly inherited tumor disorder is caused by germline mutations in the folliculin (FLCN) gene that encodes for the eponymous protein folliculin. Clinically, BHDS is predominantly characterized by the occurrence of fibrofolliculomas and trichodiscomas. A papular mucinosis, as encountered in our patient, has been described only once previously. Besides the cutaneous symptoms the disease can be associated with lung cysts and pneumothoraces as well as the development of benign and malignant kidney tumors. Following confirmation of BHDS on the DNA level, all patients with multiple cutaneous fibrofolliculomas should be treated in an interdisciplinary setting and undergo regular prophylactic screening examinations due to the association with renal cell carcinomas.


Assuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/terapia , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/terapia , Pneumotórax/diagnóstico , Pneumotórax/terapia , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Resultado do Tratamento
9.
Actas dermo-sifiliogr. (Ed. impr.) ; 103(3): 198-206, abr. 2012.
Artigo em Espanhol | IBECS | ID: ibc-102377

RESUMO

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)


Assuntos
Humanos , Masculino , Feminino , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/terapia , Dermatopatias/genética , Carcinoma/complicações , Carcinoma/genética , Síndrome de Birt-Hogg-Dubé/fisiopatologia , Pneumotórax/genética , Carcinoma de Células Renais/complicações , Carcinoma de Células Renais/genética
10.
Actas Dermosifiliogr ; 103(3): 198-206, 2012 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-21937013

RESUMO

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.


Assuntos
Síndrome de Birt-Hogg-Dubé , Fibroma/genética , Neoplasias Cutâneas/genética , Adenoma Oxífilo/genética , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/terapia , Carcinoma de Células Renais/genética , Cistos/genética , Diagnóstico Diferencial , Fibroma/patologia , Genes Dominantes , Mutação em Linhagem Germinativa , Humanos , Neoplasias Renais/genética , Pneumopatias/genética , Pneumotórax/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética
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