Systemic mast cell disease is a rare disease of unknown aetiology. Systemic infiltration and proliferation of mast cells in skin, bone marrow, gastrointestinum and lymph nodes is the central pathological feature. This study reports a patient with mastocytosis of the skin (urticaria pigmentosa) for 10 yrs. The patient was referred to hospital for dyspnoea. Chest radiograph showed moderate reticular infiltration of both lungs, computerized tomography revealed multiple lymph nodes of the mediastinum and faint nodular lesions of middle and upper areas of lungs. Transbronchial biopsy demonstrated mast cell infiltration of the lung with formation of mast cell granuloma. According to the current literature, systemic mast cell disease with pulmonary involvement is a very rare entity. After a treatment with interferon a2a over 6 months, the patient's condition and particularly dyspnoea showed improvement in parallel with an amelioration of the lesions as demonstrated by thorax computed tomography. Eur Respir J 2000; 15: 623±625. Mastocytosis is a local or systemic disease characterized by infiltration and expansion of mast cells in various tissues. Urticaria pigmentosa is diagnosed when skin is affected systemically showing multiple brown or livid papules.Whenever mast cell infiltration involves additional organs, the diagnosis of systemic mast cell disease (SMCD) is applied. Involvement of the gastrointestinal tract and bone marrow is most common. The patient presented here showed systemic mastocytosis with a biopsy-proven mast cell infiltration of the bone marrow and lung. Case reportThe present 54-yr-old male with a moderate smoking history had chronic pruritus for 10 yrs. Integument revealed exanthematic red brown papules with major involvement of the truncus. Rubbing of the skin evoked urticarial swelling. A cutaneous skin biopsy showed keratinocytes with increased pigmentation and proliferation of melanocytes. In the upper dermis, perivascular infiltrates consisted of lymphocytes, histiocytes and huge numbers of mast cells, all alterations indicative for urticaria pigmentosa. A total of 24 mast cells per high power field (magnification 6400) were counted. Figure 1 shows the truncal skin of the patient with the typical dermal manifestation of mast cell disease. The patient then presented with dyspnoea. The chest radiograph showed signs of interstitial lung disease with a fine reticular infiltration of both lungs ( fig. 2A). Computed tomography (CT) of the thorax revealed faint nodular and cystic lesions of the middle and upper fields of the lungs with mediastinal adenopathy (fig. 2B). Blood gas analysis at rest gave a mild hypoxaemia with an arterial oxygentension (Pa,O 2 ) of 8.5 kPa (64 mmHg). Pulmonary function tests showed a modest obstruction with a forced expiratory volume in one second (FEV1) of 3.05 L (77% of predicted value) and a normal vital capacity (VC) of 4.82 L (92% pred). Carbon monoxide transfer factor (TL,CO) was markedly diminished (55% pred). Laboratory chemical examinations yielded a p...

Inherited and acquired thrombophilic disorders predispose patients for thromboembolic and probably other occlusive vascular events that occur when additional risk factors play in concert. Because acute rejections in renal transplant recipients may reflect vascular events, and an impairment of the fibrinolytic system in immunosuppressed patients has been previously described, the implications of genetic or acquired risk factors of thrombophilia for the occurrence of early acute rejections after kidney transplantation were evaluated. The following risk factors of thrombophilia were determined in 97 patients after cadaveric kidney transplantation: factor V Leiden mutation, protein S, protein C, and antithrombin deficiency. In a retrospective analysis, the prevalence of acute rejections, the histologic classification when rejection episodes had been confirmed by biopsy, and other vascular complications were evaluated. In 21 of the 97 patients, an inherited or acquired risk factor of thrombophilia was detected. Prevalence of acute rejections was 71% in the first 6 mo after transplantation in patients with a thrombophilic disorder and significantly higher compared with patients without thrombophilia (41%; P = 0.017). The distribution of classic risk factors associated with acute rejections, such as number of human leukocyte antigen mismatches or percentage of panel-reactive antibodies, was similar in patients with and without thrombophilia. In the eight patients with thrombophilia and histologically proven acute rejection, four patients had an acute vascular rejection, and in two patients a vascular involvement was suspected. Furthermore, prevalence of cerebral or coronary vascular disease, or venous thromboembolic complications, was significantly higher in patients with a thrombophilic clotting defect (67%) compared with patients with normal hemostasis parameters (28%; P < 0.002). It is concluded that renal allograft recipients with thrombophilia are at risk of developing an acute rejection or other vascular event. Although the determination of thrombotic risk factors was performed at least 3 mo after an acute rejection episode, it can be presumed that acute rejection episodes are associated with subsequent coagulatory abnormalities with further consequences for transplant survival. Thus, pretransplant evaluation of genetic and acquired risk factors of thrombophilia is recommended.