Herein, we describe the case of a man, 60 years old, never smoker, peddler, born in Morocco but resident in Italy for almost 30 years with sporadic return to his country, with worsening dyspnea since 2008, diffuse arthralgias and nodules tending to ulceration at distal phalangeal joints of his hands and feet. Due to pain and severe functional limitation, at this site, between 2008 and 2012 the patient underwent several surgical amputations of fingers: the distal phalange of the third finger of his left foot, the distal phalanges of second, third and fourth fingers of his right hand and the distal phalange of first finger of his right foot (Fig. 1). In all these cases, pathological examination described a chronic granulomatous flogistic process, that involved entirely all the anatomical structures (from bone to skin), with epitelioid histiocytes, multinuclear giant cells surrounded by lymphocytes, and in some granulomas central necrosis (Fig. 2). The lesions tended to recur in other fingers of his hands and feet, and at proximal metacarpophalangeal joints of fingers amputated of distal parts; in addition, for several years a rubbery non erythematosus nor painful plaque was present, without modifications in the left perimalleolar region (Fig. 3). Because of the persistence of symptoms and the concomitant appearance of chronic chest pain with dyspnoea, the patient came to our attention with the suspect of a systemic granulomatous disease, so that sarcoidosis, mycobacteriosis and Hansen disease were taken into account. Routine blood tests were normal for age and sex, except the increase of CA-19.9, (53 U/mL, n.v. <39 U/mL). Chest X-ray showed a tenuous opacity in right supra-diaphragmatic area. This finding was not confirmed at the high resolution chest tomography (HRCT), in which parenchyma of lung was normal, while mediastinal lymph nodes were enlarged. A subsequent chest contrast CT confirmed the presence of enlarged lymph nodes tending to conglutination and with calcifications inside.
Ecg was normal, while echocardiography showed a little trans-tricuspid regurgitation and an assessed PAPs of 25 mmHg. Neurological examination was normal. Eye examination did not show significant pathologic findings. Blood gas analysis was normal for age, six minutes walking test was performed without pathological desaturation and with an appropriate distance walked in relation to age and sex; a spirometry with DLCO was performed, reported as normal in relation to age, sex and haemoglobin value. Mantoux skin test and IGRA test (Elispot-TB) were negative. PET/CT scan total body was performed showing amount of radiotracer in upper lobe of right lung (SUV max 4,01), mediastinal nodes (SUV max 6,70), skeleton in several upper and lower limbs' bones segments and metacarpophalangeal joints of his hands and feet. On the basis of these findings a bronchoscopy was executed with transbronchial needle aspiration (TBNA) of mediastinal affected lymph nodes, bronchoalveolar lavage (BAL) and bronchoaspiration for cytological and microbiological examination, including M. Tuberculosis and other mycobacterium species; pulmonary CD4/CD8 ratio was less than 3,5.
Biopsies of finger nodules and perimalleolar plaque were performed for pathologic and microbiological tests, including amplification of microbial DNA by PCR technique. The results confirmed the same granulomatous aspect of nodules previously removed, without any evidence of microbial presence.
Given the clinic and laboratory results, the patient was treated with prednisone per os at the dose of 0.5 mg/kg/die for one month, reducing the dose to 0.35 mg/Kg/die after one month, and finally to 0.2 mg/Kg/die in the third month. After one month of therapy, a reduction of inflammation was observed, the nodules seemed to be brighter and much less painful; whereas in the third month, we found a total healing, with scar formation. After six months from the beginning of therapy, blood tests were normal; a new PET/CT revealed the 18 F-fluorodeoxyglucose uptake in the region of mediastinum with a maximum SUV of 3.8 with a SUV lower than first PET/CT in the fingers of his hands; chest HRCT was unmodified. The patient is still in clinical, functional and radiological follow up, and currently in stable conditions.