A 64-year old man presented for evaluation of chronic shortness of breath associated with recurrent episodes of lower respiratory tract infections. He also reported two episodes of expectoration of frothy, bloody streaked sputum 3 days ago. He was a never smoker and worked as a constructor and welder. He denied having symptoms of dry eyes or dry mouth. There was a history of arterial hypertension, hypercholesterolemia and gastroesophageal reflux disease. His medication included nifedipine 5mg o.d., nebivolol 2.5mg o.d. and esomeprazole 40mg o.d. There was no family history of lung diseases.
On examination the patient was afebrile, with a heart rate of 63 beats/min, respiratory rate of 12 breaths/min, BP of 130/70 mm Hg and oxygen saturation of 97% on ambient air. Chest auscultation revealed expiratory wheezing. There were also multiple whitish papules in the face, nose and retroauricular area (Fig. 1). According to the patient they were attributed to his welding history and were considered a manifestation of allergic/photosensitive dermatitis. The rest of the physical examination was normal.
Complete blood count (CBC) revealed a mild increase in eosinophils (420/mm3). Rest of CBC and metabolic panel were within normal limits. Pulmonary function test revealed an obstructive pattern with significant bronchodilator reversibility: FEV1/FVC ratio was of 69%. FEV1 pre bronchodilation was 2.82 lt (81% predicted), FVC was 4.09 lt (100% predicted) and FEV1 post bronchodilation was 3.28 lt (+460ml, +16.3%). DLco and TLC were within normal limits, 88% and 94% predicted respectively. Chest X-Ray was reported as normal but because of the history of hemoptysis multidetector Computed Tomography (MDCT) of the thorax was performed. It revealed multiple lung cysts with lower lung predominance. Some cysts appeared to be septated, elliptical and the majority of them were located in the subpleural and paramediastinal region (Fig. 2). Due to the reported hemoptysis bronchoscopy with BAL was performed. Airways were patent and there were no signs of active or recent hemorrhage. BAL revealed 74% macrophages, 21% lymphocytes, 1% eosinophils and 4% neutrophils. Cultures were negative for common pathogens, fungi, Mycobacterium Tuberculosis and Nontuberculous Mycobacteria.
The combination of isolated diffuse cystic lung disease (with the aforementioned morphological and distribution characteristics) and skin findings raised suspicion of BHDS. Biopsy of the skin lesions revealed follicular epithelium proliferation surrounded by perifollicular fibrous sheaths, diagnostic of fibrofolliculomas (Fig. 3). Thus, the diagnosis of BHDS was established.