A Stepwise Diagnostic Approach to Cystic Lung Diseases for Radiologists

Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists. As the first diagnostic step, cysts should be distinguished from cavities, bullae, pneumatocele, emphysema, honeycombing, and cystic bronchiectasis. Second, cysts can be categorized as single/localized versus multiple/diffuse. Solitary/localized cysts include incidental cysts and congenital cystic diseases. Multiple/diffuse cysts can be further categorized according to the presence or absence of associated radiologic findings. Multiple/diffuse cysts without associated findings include lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome. Multiple/diffuse cysts may be associated with ground-glass opacity or small nodules. Multiple/diffuse cysts with nodules include Langerhans cell histiocytosis, cystic metastasis, and amyloidosis. Multiple/diffuse cysts with ground-glass opacity include pneumocystis pneumonia, desquamative interstitial pneumonia, and lymphocytic interstitial pneumonia. This stepwise radiologic diagnostic approach can be helpful in reaching a correct diagnosis for various cystic lung diseases.

Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor / 대한내과학회지

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by the formation of hair follicle tumors, kidney tumors, and pulmonary cysts with recurrent spontaneous pneumothorax. A 44-year-old woman visited Wonkwang University Hospital with mild dyspnea. A chest X-ray on admission revealed pneumothorax in both lung fields. Chest computed tomography (CT) revealed both pneumothorax and multiple, irregularly shaped, variable-sized cysts in both lung fields. Upon physical examination, white dome-shaped papules were observed on the face. Histological examination of the skin lesion confirmed fibrofolliculoma, and genetic studies revealed a folliculin gene mutation. Abdominal CT revealed a 1-cm small solid renal mass at the lower pole of the right kidney. We surgically removed the renal tumor, and a histological diagnosis of oncocytoma was made. Here, we report a case of BHD that demonstrated all three clinical manifestations; this is the first case report of its kind in Korea.

Severidad de presentación de acrocordones relacionada al riesgo cardiovascular medido en función de índice de masa corporal y obesidad central / Accuracy of presentation of acrochordons related to cardiovascular risk measured according to body mass index and central obesity

Contexto: los acrocordones son protrusiones benignas de piel presentes en zonas de roce; usualmente acompañan a enfermedades metabólicas. Objetivo: caracterizar la asociación entre la severidad de presentación de acrocordones y el riesgo cardiometabólico medido en función del índice de masa corporal y obesidad central en pacientes mayores de 18 años que acuden a la Consulta de Dermatología Hospital San Francisco de Quito (HSFQ). Sujetos y métodos: pacientes de ambos sexos, mayores a 18 años que acuden espontáneamente a Consulta Externa del Servicio de Dermatología del Hospital San Francisco de Quito, perteneciente al Instituto Ecuatoriano de Seguridad Social, durante los meses septiembre a octubre de 2015. Antecedentes familiares y personales de la enfermedad, medición de peso, talla, perímetro de cintura y presencia de acrocordones (coloración, número y localización) asociados a acantosis nigricans. Resultados: se estudiaron 111 sujetos, con una edad media de 47 años; predominaron pacientes del sexo femenino (60,7%). Se determinó en el 55,9% de casos un índice de masa corporal (IMC) superior a 30 Kg/m2, siendo el fototipo IV más común (59,4%) asociado a obesidad abdominal (69,3%). La zona más afectada es cuello (96,4%); se catalogaron como severos el 75,6% de casos. La prevalencia de acrocordones de coloración mixta y forma severa de la enfermedad estuvo presente en 39 pacientes (29%). Un IMC ≥30 Kg/m2 y la forma severa de acrocordones es considerado un factor riesgo, sin demostrarse asociación estadística (OR 1,83; IC 95% 0,76-4.41). Sujetos con IMC ≥ 30 Kg/m2 tiene mayor riesgo de presentar acrocordones de forma severa asociados a acantosis nigricans (OR 2,62; IC 95% 1,07-6,36). Conclusión: se demostró relación estadística en el grupo de pacientes con obesidad y acrocordones de presentación severa, que presentan acantosis nigricans asociada. (AU)

Context: acrochordons are benign skin protrusions present in areas of friction; they usually accompany metabolic diseases. Ojective: to characterize the association between the severity of the presentation of acrochordons and the cardiometabolic risk measured according to the body mass index and central obesity in patients over 18 years of age who attend the San Francisco de Quito Hospital Dermatology Consultancy (HSFQ). Subjects and methods: patients of both sexes, over 18 years of age, who spontaneously go to the External Consultation of the Dermatology Service of the San Francisco de Quito Hospital, belonging to the Ecuadorian Social Security Institute, from September to October 2015. Main measurements: Family and personal history of the disease, measurement of weight, height, waist circumference and presence of acrochordons (coloration, number and location) associated with acanthosis nigricans. Results: 111 subjects were studied, with an average age of 47 years; female patients predominated (60.7%). A body mass index (BMI) greater than 30 kg / m2 was determined in 55.9% of cases, with phototype IV being the most common (59.4%) associated with abdominal obesity (69.3%). The most affected area is neck (96.4%); 75.6% of cases were classified as severe. The prevalence of acrochordons of mixed coloration and severe form of the disease was present in 39 patients (29%). A BMI =30 Kg / m2 and the severe form of acrochordons is considered a risk factor, without showing a statistical association (OR 1.83, 95% CI 0.76-4.41). Subjects with BMI = 30 Kg / m2 have a higher risk of presenting acrochordons of severe form associated with acanthosis nigricans (OR 2.62, 95% CI 1.07-6.36). Conclusion: Statistical relationship was demonstrated in the group of patients with obesity and acrochordons of severe presentation, who presented associated acanthosis nigricans. (AU)

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.

Diagnosis and treatment of cystic lung disease

Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. A number of assessment methods that can be used to confirm CLDs are discussed, including high-resolution computed tomography, pathologic approaches, and genetic/serologic markers, together with treatment modalities, including new therapeutic drugs currently being evaluated. The CLDs covered by this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonia/follicular bronchiolitis, and amyloidosis.

Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management

Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant hereditary disorder characterized by 3 clinical manifestations, including skin fibrofolliculomas, multiple pulmonary cysts with or without spontaneous pneumothorax, and spontaneous renal tumor. A 60-year-old Korean male who had suffered from bronchial asthma incidentally diagnosed with multiple pulmonary cysts by computed tomography during a regular follow-up. Genetic studies revealed folliculin gene mutation that was a confirmative finding of BHD syndrome. Although this case showed no cutaneous manifestations or renal abnormality, genetic studies of his family and regular follow-up are recommended.

Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts / 대한내과학회지

Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation.

Birt-Hogg-Dubé syndrome / Sindrome de Birt-Hogg-Dube

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.

Uma mulher de 45 anos com história de carcinoma renal foi observada por pápulas cor da pele, faciais, cervicais e tronculares. Referia história familiar de achados cutâneos semelhantes e irmão com episódios repetidos de pneumotórax. Identificaram-se múltiplos quistos pulmonares por tomografia computorizada. Uma biópsia cutânea revelou fibroma perifolicular. O diagnóstico clínico de síndrome de Birt-Hogg-Dubé (BHDS) foi contudo corroborado pela identificação de uma nova mutação frameshift c.573delGAinsT (p.G191fsX31) em heterozigotia no exão 6 do gene da foliculina. A presença de múltiplos e típicos tumores benignos do folículo piloso, realça o papel do dermatologista no diagnóstico desta rara genodermatose, que está associada a um risco aumentado de tumores de células renais e cistos pulmonares, exigindo seguimento e aconselhamento pessoal e familiar.

Multiple Cystic Lung Disease / 결핵및호흡기질환

A lung cyst is an air-filled lucent structure surrounded by a thin wall. The presence of multiple intrapulmonary cysts is defined as cystic lung disease. Although cystic lung disease is rare, incidental detection has increased significantly in recent years by screening using computed tomography. There are many conditions that can mimic lung cysts and cause cystic lung disease. Clinical, radiographic, and histologic findings are all necessary for a proper diagnosis, and multidisciplinary approaches are frequently required. The aim of this report is to review the causes and characteristics of cystic lung disease to better understand and improve treatment.

Síndrome de birth-hogg-dube. A propósito de un caso. / Birth-hogg-dube syndrome. A case report

Se describe el caso de una paciente de 48 años de edad, portadora de múltiples lesiones quísticas pulmonares y una tumoración benigna en riñón izquierdo denominada Síndrome de Birt-Hogg-Dube. El objetivo del presente trabajo es reportar esta rara entidad y discutir sobre la necesidad de realizar controles periódicos en los pacientes que la padecen, dada la mayor frecuencia de transformación maligna de esta patología, así como la complicación del cuadro pulmonar con neumotórax espontáneo

We report the case of a 48-year-old female patient who presented multiple lung cystic lesions and a benign tumor in the left kidney called Birt-Hogg-Dube syndrome. The purpose of this paper is to report this rare disease and discuss the need for periodical control once the problem is diagnosed. This condition presents an increased risk of renal neoplasm and spontaneous pneumothorax is the most common complication of the pulmonary pathology.

A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation / 대한내과학회지

Birt-Hogg-Dube (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal cancer. A 65-year-old woman was admitted to Seoul St. Mary's Hospital to treat pneumonia, and we found that she had experienced recurrent spontaneous pneumothorax and had bilateral multiple pulmonary cysts with no history of smoking. Mutation analysis of the folliculin gene identified a novel mutation in exon 9 (c.997_998delTC; p.Ser333ArgfsX56). Except for the lung manifestation, no other features of BHD syndrome were detected in this case. Here, we report a case of BHD syndrome that manifested only as lung disease with a novel mutation.

A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation / 대한내과학회지

Birt-Hogg-Dube (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal cancer. A 65-year-old woman was admitted to Seoul St. Mary's Hospital to treat pneumonia, and we found that she had experienced recurrent spontaneous pneumothorax and had bilateral multiple pulmonary cysts with no history of smoking. Mutation analysis of the folliculin gene identified a novel mutation in exon 9 (c.997_998delTC; p.Ser333ArgfsX56). Except for the lung manifestation, no other features of BHD syndrome were detected in this case. Here, we report a case of BHD syndrome that manifested only as lung disease with a novel mutation.

Genetic Study in a Case of Birt-Hogg-Dube Syndrome

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clinical finding and histopathologic examination on the cheek lesion, it was diagnosed as multiple trichodiscomas. Subsequently, molecular analysis revealed a mutation in the folliculin gene. We report a rare case of BHDS with a proved gene mutation.

Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dube syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered.

Multiple Facial Papules of Birt-Hogg-Dube Syndrome Treated with a CO2 Laser

No abstract available.

A Case of Solitary Trichodiscoma / 대한피부과학회지

Trichodiscoma are hamartomas of the dermal portion of the hair disc, and these are found as asymptomatic flesh- colored papules 1~3 mm in diameter, and they are usually located on the face, trunk and thigh. Histopathologically, this is characterized by non-encapsulated fibrovascular lesion with a myxoid stroma surrounded by folliculo- sebaceous units. Birt-Hogg-Dube syndrome, which develops multiple trichodiscomas with fibrofolliculomas and skin tags, has been described. The case of solitary trichodischoma is rare. We recently encountered a 29-year-old woman with a solitary, dome-shaped papule on the right thigh. After histopathologic examination, the lesion was diagnosed as trichodiscoma.