[What's new in internal medicine?]. / Quoi de neuf en médecine interne?

Among diagnostic progress over the last three years in internal medicine, Antisynthetase Syndrome is now more easily recognised with the diffusion of laboratory tests for research of antibodies against tRNA synthetases (Anti JO1, anti PL7, Anti PL12). In two third of cases, these antibodies are found despite absence of antinuclear antibodies. Hence, we have to search them specifically in patients with polyarthritis associated with myositis, cutaneous manifestations (Raynaud phenomenom and "mechanic'hands") and interstitial lung disease. Discovery of asymptomatic mutation in the L ferritin coding sequence help us to better understand the "unexplained" hyperferritinemia. Initially described by japonese gastroenterologists, auto immune pancreatitis in fact a part of a systemic sclerosing disease with a biochemical hallmark: in crease of a subclass of immunoglobulins G (IgG4). A new pediatric disease due to a deficiency of the interleukin1 receptor antagonist (multifocal aseptic osteitis, periostitis, stomatitis, disseminated pustulosis) help us to better understand unexplained auto inflammatory diseases. The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia.

[Usefulness of combined positron emission tomography and computed tomography imaging in Erdheim-Chester disease]. / Intérêt de la tomographie par émission de positons couplée au scanner dans la maladie d'Erdheim-Chester.

INTRODUCTION: Erdheim-Chester disease is a rare non-Langerhans form of histiocytosis. We report the use of combined fluorodeoxyglucose positron emission tomography and computed tomography (18F-FDG PET-CT) in this disease. EXEGESIS: Three men, aged from 55 to 74 years with confirmed Erdheim-Chester disease were included. 18F-FDG PET-CT allowed to detect visceral and vascular involvement of the disease which were overlooked with CT-scan or magnetic resonance imaging: left common carotid and ilio-femoral artery in one patient, coronary, femoral and tibia in the second, aortic, common carotid, femoral and mandibula in the remaining patient. Also, sequential 18F-FDG PET-CT was useful to appreciate treatment efficiency (decrease hyperfixation) and decide treatment modification (interferon alpha). CONCLUSION: 18F-FDG PET-CT combined imaging allows to assess the extent of involvement in Erdheim-Chester disease. 18F-FDG PET-CT may be also a useful tool in the management of Erdheim-Chester disease.

Molecular characterization of the idiopathic hypereosinophilic syndrome (HES) in 35 French patients with normal conventional cytogenetics.

Idiopathic hypereosinophilic syndrome (HES) characterized by unexplained and persistent hypereosinophilia is heterogeneous and comprises several entities: a myeloproliferative form where myeloid lineages are involved with the interstitial chromosome 4q12 deletion leading to fusion between FIP1L1 and PDGFRA genes, the latter acquiring increased tyrosine kinase activity. And a lymphocytic variant, where hypereosinophilia is secondary to a primitive T lymphoid disorder demonstrated by the presence of a circulating T-cell clone. We performed molecular characterization of HES in 35 patients with normal karyotype by conventional cytogenetic analysis. TCRgamma gene rearrangements suggesting T clonality were seen in 11 (31%) patients, and FIP1L1-PDGFRA by RT-PCR in six (17%) of 35 patients, who showed no evidence of T-cell clonality. An elevated serum tryptase level was observed in FIP1L1-PDGFRA-positive patients responding to imatinib, whereas serum IL-5 levels were not elevated in T-cell associated hypereosinophilia. Sequencing FIP1L1-PDGFRA revealed scattered breakpoints in FIP1L1-exons (10-13), whereas breakpoints were restricted to exon 12 of PDGFRA. In the 29 patients without FIP1L1-PDGFRA, no activating mutation of PDGFRA/PDGFRB was detected; however; one patient responded to imatinib. FISH analysis of the 4q12 deletion was concordant with FIP1L1-PDGFRA RT-PCR data. Further investigation of the nature of FIP1L1-PDGFRA affected cells will improve the classification of HES.

Polycythemia vera and primary hyperparathyroidism.

A patient with the clinical manifestations of polycythemia and hypercalcemia underwent an extensive examination for occult neoplasm. No malignancy was found; however, a parathyroid adenoma was excised. After its removal, the hypercalcemia and polycythemia disappeared during a two-year follow-up period.

Urogenital manifestations of Wegener granulomatosis.

We report 8 patients with Wegener granulomatosis (WG) who suffered from symptomatic urogenital involvement including acute urinary retention related to prostatitis, orchitis, ureteral stenosis, bladder pseudotumor, and penile ulceration. Urogenital manifestations occurred as an isolated manifestation of WG in 4 patients, at the onset of the disease in 1 patient, and as the only symptom of relapse in 3. Data used to distinguish specific WG involvement from infection or cyclophosphamide urothelial toxicity are discussed. Four patients needed a surgical procedure consisting of suprapubic cystostomy for acute urinary retention, bilateral ureteral double J stents for bilateral ureteral stenosis, and prostate transurethral resection. Urogenital symptoms promptly resolved with medical therapy. High-dose corticosteroids and immunosuppressive drugs should be used as first-line therapy to avoid unnecessary surgery.

Leiomyosarcoma of the inferior vena cava. Experience with 7 patients and literature review.

Leiomyosarcoma of the inferior vena cava (IVC) is a rare malignant tumor originating in the smooth muscle of the media. Although rare, it is the most common malignancy in the IVC. One hundred and six cases have been reported thus far in the world literature, usually as isolated case reports. Clinical, radiologic, and therapeutic management and follow-up, including 7 additional cases, have been reviewed and summarized. Clinical manifestations are dependent upon the location of the tumor. The main symptom was a palpable mass for a tumor in segment I, abdominal pain for segment II, the presence of Budd-Chiari syndrome for segment III. Segment II was the most frequent site of leiomyosarcoma of the IVC, alone (n = 41) or with other segments (n = 39). Before laparotomy, clinical recognition was difficult or impossible. Recently, however, newer imaging modalities including ultrasound and CT scan have permitted earlier diagnosis. Metastases, when diagnosed, were either present at diagnosis (n = 20) or appeared as the disease progressed (n = 18). Metastatic disease frequently involved the liver, lung, lymph nodes, or bone. The small number of patients alive without metastases (16/113) must be analyzed all the more carefully because these patients were followed for less than 2 years. When prolonged follow-up is possible, the number of patients alive without neoplastic disease is significantly reduced. We found the prognosis of patients with LMS of the IVC to be poor. Diagnosis was made at autopsy for 27 patients. Among the 86 patients with follow-up information, 59 died within a mean of 16 months, and 26 were alive 25 months after the diagnosis. The main prognostic factor is topography, particularly the highest level of extension of the tumor. The upper-segment tumors have the poorest prognosis. The best therapeutic management is difficult to recommend because most of the cases in the literature did not include a sufficient follow-up. Given the very small number of patients completely free of neoplastic disease after sufficient follow-up, it seems unlikely that leiomyosarcoma of the IVC can now be cured. Patients who received a combination of surgery, radiotherapy and chemotherapy remained free of disease for longer periods. The unanswered question is: what is the best timing for each of these treatments? We recommend diagnosis of leiomyosarcoma of the IVC through biopsy guided by ultrasonography or computed tomographic scan. Therapeutic management should include large doses of chemotherapy preoperatively with or without radiotherapy to reduce tumor size.(ABSTRACT TRUNCATED AT 250 WORDS)

Renal involvement in systemic lupus erythematosus. A study of 180 patients from a single center.

Charts of 180 patients (147 women, 33 men) with systemic lupus erythematosus (SLE) complicated by renal involvement were retrospectively analyzed from a series of 436 patients. Mean age at renal disease onset was 27 years. Thirty-six percent of the patients had renal involvement after diagnosis of lupus, for 30.7% of that group it was more than 5 years later. Renal involvement occurred more frequently in young male patients of non-French non-white origin. Patients with renal involvement suffered more commonly from malar rash, psychosis, myocarditis, pericarditis, lymphadenopathy, and hypertension. Anemia, low serum complement, and raised anti-dsDNA antibodies were more frequent. According to the 1982 World Health Organization classification, histologic examination of initial renal biopsy specimen in 158 patients showed normal kidney in 1.5% of cases, mesangial in 22%, focal proliferative in 22%, diffuse proliferative in 27%, membranous in 20%, chronic sclerosing glomerulonephritis in 1%, and other forms of nephritis in 6.5%. Distribution of initial glomerulonephritis patterns was similar whether renal involvement occurred before or after the diagnosis of lupus. Transformation from 1 histologic pattern to another was observed in more than half of the analyzable patients (those who underwent at least 2 renal biopsies). Nephritis evolved toward end-stage renal disease in 14 patients despite the combined use of steroids and cyclophosphamide in 12. Initial elevated serum creatinine levels, initial hypertension, non-French non-white origin, and proliferative lesions on the initial renal biopsy were indicators of poor renal outcome. Twenty-four patients died after a mean follow-up of 109 months from SLE diagnosis. Among our 436 patients, the 10-year survival rate was not significantly affected by the presence or absence of renal involvement at diagnosis (89% and 92%, respectively).

Neurosarcoidosis: signs, course and treatment in 35 confirmed cases.

Thirty-five cases of biopsy-proven sarcoidosis with neurologic manifestations are reported. Neurosarcoidosis was the presenting symptom in 31% of cases and the only clinical manifestation in 17%. Mean follow-up time was 48 months. Central nervous system involvement was observed in 37% and meningitis in 40% of patients. Other manifestations were cranial nerve palsies (37%), peripheral neuropathy (40%), and myopathy (26%). Multiple neurologic manifestations were present in 51% of cases. All but 4 were treated with corticosteroids. Another immunosuppressive agent or cerebral irradiation was added in 6 and 2 patients, respectively. Complete recovery was observed in 46%, improvement in 46%, 4% remained stable, and 4% worsened. There were no deaths. We advocate treating neurosarcoidosis with corticosteroids as early as possible. If the patient's condition worsens, additional immunosuppressive agents or cerebral irradiation is warranted.

Cerebral venous thrombosis in Behçet's disease: clinical study and long-term follow-up of 25 cases.

Among 250 patients with Behcet's disease, we describe 25 cases of angiographically proven cerebral venous thrombosis. Intracranial hypertension was the most frequent manifestation. Two initially untreated patients relapsed. Treatment of cerebral venous thrombosis consisted of combined heparin and steroids in 19 patients, steroids alone in three, and heparin alone in three others. Neurologic symptoms improved rapidly in all. Nineteen patients received long-term anticoagulation, and two received aspirin. Relapse of cerebral venous thrombosis or development of optic atrophy did not occur in treated patients. Partial or total recanalization of the occluded sinus was frequent. After more than 3 years of follow-up, the prognosis of dural sinus thrombosis is satisfactory.

Multiple pulmonary arterial aneurysms in Behcet's disease and Hughes-Stovin syndrome.

Four case studies of patients with angiographically documented pulmonary arterial aneurysms are presented. In two cases, Behcet's disease was diagnosed; one case corresponded to the syndrome described by Hughes and Stovin, that is, venous thrombosis especially of the vena cava accompanied by singular or multiple pulmonary arterial aneurysms in young patients; and the last case could best be described as an association of the two. Our observations lead us to question the existing notions concerning the relationship between Behcet's disease and Hughes-Stovin syndrome-the clinical, angiographic and histologic aspects of the vascular manifestations are comparable. Typically the two diseases run similar courses with death resulting frm the rupture of the aneurysms and massive hemoptysis. These case studies cast certain doubts as to the effectiveness of the corticosteroid treatment usually prescribed. Finally, we suggest that Hughes-Stovin syndrome might be, in fact, a manifestation of Behcet's disease.

Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma.

PURPOSE: Eosinophilic fasciitis (EF) is a newly recognized syndrome that bears much discussion in regard to its distinction from progressive systemic sclerosis (PSS). In vivo microscopic examination of the nailbed capillaries has elicited the description of a characteristic vascular pattern seen in PSS dermatomyositis, and mixed connective tissue disease. To clarify the capillaroscopic aspects of this syndrome and to seek criteria distinguishing it from PSS, we performed nailbed capillary microscopy in 15 patients with EF and compared the results of this examination with those in 98 patients with PSS and those in 75 normal control subjects. PATIENTS AND METHODS: The diagnosis of EF was made in 15 patients aged 25 to 69 years (average 43 years) who had an acute course, with painful edema and subcutaneous sclerotic induration sparing the extremities. There was a peripheral hypereosinophilia in all 15 patients. Twelve underwent muscle or deep cutaneous biopsy, including the fascia. Nine of these had fascial thickening, and an inflammatory cell infiltrate was observed in eight. The diagnosis of PSS was made in 98 patients, according to the usual criteria. Seventy-five normal control subjects were examined. All the capillaroscopic examinations were performed by one observer. RESULTS: None of the patients in the EF group had a scleroderma-like capillaroscopic pattern. Thirteen had normal results of capillary microscopy. Two had a nonspecific organic microangiopathic picture. In the group of 98 patients with PSS, 89 had numerous megacapillaries (p less than 0.001), seven had a nonspecific organic microangiopathic pattern, and two had normal findings (p less than 0.001). In the whole group of 75 control subjects, the features were normal. CONCLUSION: Our results show a clear distinction between the results of capillary microscopy in cases of EF and PSS. The normal pattern in EF seems to be another argument for its differentiation from PSS.

Efficacy of intravenous gammaglobulin therapy in chronic refractory polymyositis and dermatomyositis: an open study with 20 adult patients.

PURPOSE: Polymyositis and dermatomyositis are inflammatory muscular diseases of unknown cause. Many interventions are available to treat patients with these conditions including corticosteroids, immunosuppressive drugs, plasmapheresis, and total body irradiation. However, these therapies are not always effective, and they may be associated with certain serious side effects. An attempt was made to evaluate the efficacy of polyvalent intravenous immunoglobulin (IVIG) in patients with polymyositis or dermatomyositis refractory to traditional treatment. PATIENTS AND METHODS: Twenty patients (16 women and 4 men; mean age 43 [16 SD] years), 14 with chronic refractory polymyositis and six with dermatomyositis, received high doses of IVIG because of the failure of traditional treatments (prednisone [19], methotrexate [10], azathioprine [6], cyclophosphamide [3], cyclosporine [3], chlorambucil [1], plasmapheresis [8], lymphopheresis [1], and total body irradiation [1]). In one patient with positive results on picornavirus serologic testing, IVIG was the first treatment choice. IVIG therapy was given with prednisone in 15 patients, with methotrexate in six patients, and with plasmapheresis in one patient. There were no changes in treatment in the 2 months before the introduction of IVIG therapy and no increases in dose during this treatment. Preparations of polyvalent human intravenous gammaglobulins with increased intact immunoglobulin G were used. Thirteen patients received 1 g/kg daily for 2 days each month, and seven patients received 0.4 g/kg daily for 5 days each month. The mean duration of treatment was 4 months. RESULTS: Clinical assessment, which consisted of the measurement of proximal muscle power, and biochemical studies were carried out before each treatment period. Significant clinical improvement was noted in 15 of the 20 patients. Mean muscle power estimated for the 20 patients before and after IVIG therapy was statistically significantly reduced (p less than 0.01). Eighteen patients showed biochemical improvement, and two patients with normal initial serum creatine kinase levels showed clinical improvement. Mean creatine kinase levels for the 20 patients during IVIG therapy showed a statistically significant decrease from the first IVIG perfusions (p less than 0.01). Side effects of IVIG therapy were noted in four patients; however, these effects were mild. During IVIG therapy, steroid doses were significantly reduced from the second or the third IVIG infusion (p less than 0.05). CONCLUSION: IVIG is an efficacious new therapy for polymyositis and dermatomyositis and should play a role in the treatment of these diseases, replacing or reducing steroid and immunosuppressive medications.

Prospective and serial study of primary amyloidosis with serum amyloid P component scintigraphy: from diagnosis to prognosis.

OBJECTIVE: The purpose of this study was to assess the value of the serum amyloid P (SAP) component scintigraphy in patients with primary amyloidosis (AL). MATERIAL AND METHODS: Pure human SAP labeled with iodine-123 (123I-SAP) was given intravenously to 24 patients with biopsy-proven systemic amyloidosis (15 without multiple myeloma = group 1, and 9 with multiple myeloma = group 2) and to 6 patients with multiple myeloma without any clinical or biological signs of amyloidosis (group 3). Whole-body images as well as regional views and tissue retention levels were obtained after 24 hours. Our study was approved by the institutional review committee and all individuals gave informed consent and were prospectively studied (median 13 months, range 1 to 47 from the date of the scintigraphy to May 1995). RESULTS: Organ localization of 123I-SAP, indicating the presence of substantial visceral amyloid deposits, was observed in all patients in group 1 and 2. The organ uptake of 123I-SAP included the spleen (1 patient was splenectomized) in 20 of 23 cases (87%), the liver in 15 of 24 (60%), and the kidneys in 6 of 24 (25%). Myocardial 123I-SAP was never seen although 13 out of the 24 patients had clinical or echographic data for amyloidosis. Twenty-four hour tissue retention was significantly elevated in all patients (group 1 and group 2): 55.66% +/- 19.16% in group 1 and 34.37% +/- 24.92% in group 2, as compared with normal levels < 24%. The sensitivity of the technique was 79% when only organ uptake was considered but reached 100% when tissue retention was also considered. The 24-hour tissue retention might be correlated with the severity of the amyloidosis: mean survival in patients with tissue retention greater than 50% was 11.3 months versus 24.5 months in patients with levels less or equal to 50%. Five of the 6 patients with multiple myeloma without evidence of amyloidosis had abnormal 123I-SAP imaging and 24-hour tissue retention levels. In 2 of them, amyloidosis was secondly detected. In the 9 patients who had two scintigraphies, variations in 24-hour tissue retention values were in accordance with the clinical evaluation. CONCLUSIONS: Spleen and liver distribution of amyloidosis is mostly revealed by 123I-SAP scintigraphy in patients with AL amyloidosis. The uptake of 123I-SAP appeared in proportion to the quantity of amyloidosis present in different tissues, and the relative quantity of amyloid deposits in the myocardium, carpal tunnel, digestive tract, and kidneys was often small and seldom visualized by 123I-SAP scintigraphy. In contrast 24-hour tissue retention levels were abnormal in all cases of known AL amyloidosis. This may be a positive argument for the diagnosis of amyloidosis when histopathological tests are normal. Tissue retention levels appear important as they may be correlated with survival.

Systemic capillary leak syndrome: report on 13 patients with special focus on course and treatment.

BACKGROUND: Systemic capillary leak syndrome (SCLS) is a rare condition characterized by unexplained episodic capillary hyperpermeability due to a shift of fluid and protein from the intravascular to the interstitial space. This results in diffuse swelling, weight gain, and renal shut-down. From the first publication in 1960, only 34 cases have been reported. OBJECTIVE: To collate enough patients to observe the natural history of the disease and evaluate the efficacy of empiric treatments. DESIGN: Multicentric retrospective study. RESULTS: Thirteen patients (6 women and 7 men) were collated with a mean follow-up of 6.4 years. Eight patients are still alive after a mean of 5.6 years (range 1 to 15). Three patients out of the 11 who were not lost to follow-up died; 1 during an attack and 2 because of a progression towards multiple myeloma. CONCLUSIONS: Our series shows an improvement in the prognosis of SCLS due most likely to improved management during attacks. Some patients' disease could evolve into a multiple myeloma. Treatment is still empiric and no prophylactic therapy, including terbutaline associated with aminophylline, has clearly proven its efficacy.

Systemic medium-sized vessel vasculitis associated with chronic myelomonocytic leukemia.

OBJECTIVE: To determine the clinical aspects of systemic vasculitis associated with chronic myelomonocytic leukemia (CMML). METHODS: In this retrospective study, 8 patients suffering from systemic vasculitis associated with CMML are described. The French and English literature on systemic vasculitis associated with myelodysplasia was reviewed. RESULTS: All 8 patients had a systemic medium-sized vessel vasculitis which fulfilled the American College of Rheumatology criteria for polyarteritis nodosa in the setting of active CMML. Antineutrophil cytoplasmic antibodies (ANCA) were negative in 7 patients. One patient had cytoplasmic ANCA by indirect immunofluorescence without antiproteinase 3 or antimyeloperoxydase antibodies on the enzyme-linked immunosorbent assay. At presentation, 6 patients had fever of unknown origin, 5 had polymyalgia rheumatica, 3 had sensory hearing loss, and 4 had eosinophilia. None had viral infection or drug-associated vasculitis. Diagnostic procedures included renal or hepatic angiography in 6 patients which showed microaneurysms in 4, skin and temporal artery biopsy in 2 which showed vasculitis, and 1 postmortem examination which showed gastroduodenal arteritis. All patients were treated with corticosteroids, and 7 received immunosuppressive drugs. Death was attributable to vasculitis in 2 cases, infection in 3, and other vasculitis-related causes in 2. In a review of the French-English literature, we found 11 similar cases of ANCA-negative systemic vasculitis, generally associated with refractory anemia, with or without blast excess. CONCLUSIONS: Systemic ANCA-negative polyarteritis nodosa-type vasculitis seems closely associated to CMML. Clinical presentation is nonspecific, and systemic vasculitis should be suspected when a patient with myelodysplasia develops atypical manifestations. Renal, gastrointestinal, or hepatic angiography are useful diagnostic procedures when more invasive biopsies should be avoided because of low platelet count. The prognosis of CMML-associated systemic vasculitis is poor.

The role of B-mode ultrasonography and electron beam computed tomography in evaluation of Takayasu's arteritis: a study of 43 patients.

OBJECTIVES: To evaluate the capacity of B-Mode ultrasonography (B-Mode US) and electron-beam computed tomography (EBCT) to detect arterial changes in Takayasu's arteritis. METHODS: EBCT angiography of the thoracoabdominal aorta and pulmonary artery, and B-mode US of large superficial arteries (common carotid, subclavian, and common femoral arteries) were performed prospectively in 43 consecutive patients with established Takayasu's arteritis. The arterial wall thickness was measured, and lumen changes (stenosis, aneurysm) were noted. RESULTS: The combined results of B-Mode US and EBCT examinations showed that every patient had at least one abnormality at the studied sites. The median score of abnormal sites was 7. The most frequent lesion was a characteristic long, homogeneous, circumferential thickening, visualized in 52% of examined sites and in all patients but one (98%). Stenosis was detected by US and by EBCT, respectively, in 44% and 32% of patients, and aneurysm in 0.4% and 68%. CONCLUSIONS: In Takayasu's arteritis, B-Mode US and EBCT was able to visualize the classical caliber abnormalities (stenosis, aneurysm) and, in contrast to angiography, to depict vessel wall thickening, a major pathologic feature of the disease. Both these safe techniques seem more useful than angiography to characterize and map the vascular lesions of Takayasu's arteritis.

A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.

A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing revealed a point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42.

Pregnancy and its outcome in systemic lupus erythematosus.

In a multi-centre prospective study of systemic lupus erythematosus and pregnancy in France, 117 cases were identified from 1987 to 1992. We report significant morbidity and mortality for mother and fetus from an analysis of 103 cases. Pregnancy outcome was as follows: 28 full-term births, 48 premature births, 18 fetal losses (13 early and two late spontaneous abortions, three stillbirths), five therapeutic abortions and four elective abortions (for unwanted pregnancy). Four preterm neonates died. Lupus was active at pregnancy onset in 28 patients. Of 75 patients with inactive lupus at conception, 27 relapsed during pregnancy, and seven postpartum. Two patients with nephrotic syndrome treated with high-dose corticosteroids died from opportunistic infections. Fetal loss correlated with a history of proteinuria and absence of anti-SSA antibodies. Prematurity was related to a history of fetal loss, active lupus at pregnancy onset, hypertension and > or = 20 mg/day prednisone during pregnancy. Intrauterine growth retardation correlated with pregnancy of short duration, low serum C3 or C4, hypertension, and absence of SSA antibodies. Three of 22 newborns whose mothers had anti-SSA antibodies developed neonatal lupus: two with cutaneous involvement and one with complete atrioventricular block.

Wegener's granulomatosis. Dermatological manifestations in 75 cases with clinicopathologic correlation.

BACKGROUND AND DESIGN: Mucosal and cutaneous manifestations of Wegener's granulomatosis (WG) are usually described separately. Both frequently occur at any time of the illness. The aim of this work was to analyze, retrospectively, dermatologic symptoms of 75 WG cases encountered from 1973 through 1992. All patients fulfilled the American College of Rheumatology criteria for WG. We compared clinical and histologic findings and looked for a relationship between these manifestations, disease activity, and other symptoms of WG. RESULTS: Thirty-five patients had skin or mucosa involvement. Clinical features were palpable purpura (26 cases), oral ulcers (15), skin nodules (six), skin ulcers (five), necrotic papules (five), gingival hyperplasia (three), pustules (two), palpebral xanthoma (two), genital ulcer (one), digital necrosis (one), and livedo reticularis (one). Pathologic findings depended on clinical aspects. Thirty-five involved skin or mucosa biopsy specimens were obtained from 24 patients. Nongranulomatous vasculitis was associated with purpuric lesions. Granulomatous inflammation was associated with nonpurpuric lesions. Dermatologic manifestations were associated with a higher frequency of articular and renal involvement (68% vs 25%; 80% vs 47%, respectively). Except for xanthoma, onset of skin or mucosa lesions indicated active systemic disease. These manifestations responded well to steroids and cyclophosphamide. CONCLUSIONS: Various dermatologic manifestations are frequently observed in WG. They have distinctive pathologic features and usually indicate the presence of active systemic disease, especially with kidney and joint involvement.