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Letter to the Editor
Birt-Hogg-Dubé syndrome: A case report
Síndrome de Birt-Hogg-Dubé: descripción de un caso
Juan Margallo Iribarnegaray
Corresponding author
juanmargalloi@gmail.com

Corresponding author.
, Fernando Revuelta Salgado, María Teresa Martínez Martínez
Servicio de Neumología, Hospital Universitario 12 de Octubre, Madrid, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We report the case of a 48-year-old man referred to the pulmonology clinic following the finding of lung cysts on an abdominal CT scan&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">The patient was originally from the Dominican Republic&#44; resident in Spain for the last 13 years&#59; the last trip to his country was 3 months before coming to our clinic&#44; with no apparent epidemiological risk exposures&#46; He worked as a maintenance manager&#44; without exposure to pulmonary toxins&#44; and did not report contact with animals&#46; He claimed to have consumed about 200<span class="elsevierStyleHsp" style=""></span>g of alcohol per week until a year ago&#44; having been abstinent since then&#46; No smoking or consumption of other street drugs&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">His personal history included hypertension&#44; OSAS treated with CPAP&#44; alcoholic liver disease and multiple skin lesions that appeared 10 years earlier in the form of brownish papules and scars distributed over the face&#44; abdomen&#44; and anterior thoracic region&#44; with no clear diagnosis &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>a&#41;&#46; Among his family history&#44; his mother had been diagnosed with &#8220;kidney cysts&#8221;&#44; without study or follow-up&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">At the follow-up visits to the gastroenterology department&#44; an abdominal CT scan showed bilateral solid renal lesions&#44; three in the right kidney&#44; the largest measuring 31<span class="elsevierStyleHsp" style=""></span>mm&#44; and one in the left kidney measuring 23<span class="elsevierStyleHsp" style=""></span>mm&#44; suspicious of malignancy &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>b&#41;&#46; Lung sections showed cystic lung lesions in the middle lobe&#44; lingula and both lower lobes&#44; most of them subcentimetric &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>c&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">For this reason&#44; he was admitted to hospital 9 months before he was referred to our clinic&#44; performing a CT-guided biopsy of the right kidney&#44; with the anatomical pathology diagnosis of oncocytoma of trabecular morphology&#46; Radiological follow-up was decided&#44; and he was referred to our clinic for lung cysts evaluation&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Given the presence of renal lesions&#44; multiple skin papules and lung cysts&#44; a suspected diagnosis of Birt-Hogg-Dub&#233; syndrome &#40;BHD&#41; was established&#46; A study of the FLCN gene was requested&#44; identifying a germline variant c&#46;754dupG&#44; p&#46;A252Gfs&#42;40&#44; considered pathogenic and associated with BHD syndrome&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Respiratory function tests were normal except for mild diffusion impairment &#40;DLCO 63&#37;&#41;&#44; and a chest CT confirmed the presence of multiple bilateral lung cysts&#44; predominantly in the lower lobes&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">The patient underwent clinical and radiological follow-up by chest-abdominal CT&#44; with no new symptoms or progression of the lesions&#46; A genetic study for BHD syndrome was recommended to his immediate family members&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">A lung cyst is a lesion defined as an area of lucency&#44; of round morphology&#44; delimited by a thin wall of less than 2<span class="elsevierStyleHsp" style=""></span>mm thick and with a well-defined air&#47;lung interface&#46; Diffuse cystic lung diseases &#40;DCLD&#41; are a rare and heterogeneous group of diseases characterized by the presence of multiple cysts that affect all the lung lobes&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Within the differential diagnosis of DCLD we must consider entities such as lymphangioleiomyomatosis&#44; Langerhans cell histiocytosis&#44; lymphoid interstitial pneumonia&#44; amyloidosis&#44; and BHD syndrome&#46; Other less common causes of CIDD include infections&#44; neoplasms&#44; light chain deposition disease and others&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2&#44;3</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">BHD syndrome is an autosomal dominant genetic disease caused by a mutation in the FCLN gene located on chromosome 17p11&#46;2 which encodes folliculin&#46; The disease is characterized by involvement of the skin&#44; kidney and lung&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Skin involvement is associated with the appearance of multiple papular lesions typically affecting the face&#44; neck&#44; and trunk&#46; Histologically&#44; they correlate with benign tumours&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">From a nephrological point of view&#44; the BHD syndrome has been associated with the occurrence of kidney tumours between the ages of 25 and 75&#44; which are usually bilateral and multifocal&#46; Regarding anatomical pathology&#44; they are very heterogeneous neoplasms&#44; with the hybrid oncocytoma being the most common type&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">Finally&#44; in the lung&#44; the disease is associated with the development of multiple bilateral cysts in most cases&#46; Around 25&#37; of patients have a pneumothorax during the course of the disease&#44; secondary to the rupture of one of these cysts&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">In terms of follow-up and clinical management&#44; nephrology is where the main complexity of these patients resides due to the risk of developing malignancies&#46; In general&#44; radiological screening and surgical intervention is recommended when the largest tumour reaches 3<span class="elsevierStyleHsp" style=""></span>cm&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a></p></span>"
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