[Familial Mediterranean fever among the autoimmune diseases]. / La maladie périodique au sein des maladies auto-inflammatoires.

During the first attacks of familial Mediterranean fever, each of the disease symptoms can suggest a series of disorders. When the disease is older, the recurrence of symptoms may simulate some systemic diseases, but mainly suggests familial Mediterranean fever, one of a group of hereditary autoinflammatory diseases. Before the gene for familial Mediterranean fever was identified, various sets of criteria were used for diagnosis. The presence of MEFV mutations confirms the diagnosis, but the clinical criteria still determine who should undergo this genetic testing. The genotype-phenotype correlations add a prognostic dimension to the mutations identified. Genotyping can also lead to the diagnosis of the other autoinflammatory diseases, which constitute the basis of the differential diagnosis of familial Mediterranean fever. The hyperimmunoglobulinemia D syndrome (HIDS) is very similar to familial Mediterranean fever in its recessive transmission and abdominal and articular symptoms. It can be distinguished by the European origin of the patients, the presence of cervical lymph nodes and the increased IgD levels. Of the diseases with dominant transmission, the TNF receptor-associated periodic syndromes (TRAPS) are suggested by periorbital edema and migrating inflammatory cellulitis. Muckle and Wells syndrome is revealed by episodes of fever with urticaria and arthralgia, complicated by deafness and amyloidosis. Mutations in the same gene are responsible for two disorders, both appearing in childhood: familial cold urticaria syndrome (FCUS) and chronic infantile neurocutaneous articular syndrome (CINC). The pathogenesis of familial Mediterranean fever is still unclear. Pyrin/marenostrin, the protein produced by the MEFV gene, appears to hae a physiological antiinflammatory effect that inhibits proinflammatory cytokines. Mutation of the gene may eliminate this feedback mechanism and expose the patient to flares from any inflammatory stimulus, even minimal. Amyloid is produced by the serum amyloid A protein (SAA), and its occurrence is influenced by the type of MEFV mutation, but also the genotype of the gene producing SAA.

[From familial Mediterranean fever to amyloidosis]. / De la maladie périodique à l'amylose.

The progression of familial Mediterranean fever is marked by the recurrence, at varying intervals, of acute flares that regress spontaneously. Prognosis, which depends on the occurrence of amyloidosis, has been transformed by colchicine treatment. Incidence of amyloidosis is higher in certain ethnic groups (Jews from North Africa, Turks) and depends on by the specific MEFV mutation. Amyloid is composed of clusters of protein strands identical to the AA protein of secondary amyloidosis and infiltrates the walls of all arterioles except those of the central nervous system. The earliest and most consistent localization is in the kidney, where it develops over several years and in 4 stages--preclinical (latency), proteinuric, nephrotic and uremic--before concluding in end-state renal failure. Before the advent of colchicine, dialysis and transplantation, only renal amyloidosis caused clinical manifestations and lethal complications; any amyloidosis at any other sites remained latent. Prolonged survival with hemodialysis and kidney transplantation now leaves time for manifestation of these other localizations, such as infiltration into the intestines causing malabsorption, or potentially lethal cardiac lesions. Treatment of familial Mediterranean fever is based on the continuous administration of colchicine, which at the average dose of 1 to 2 mg per day can prevent flares or at least reduce their frequency or intensity. Systematic use of colchicine also prevents the onset of amyloidosis, even in the rare cases where it cannot prevent flares. These data fully justify the systematic use of colchicine for continuous prophylactic treatment from diagnosis and even after kidney transplantation, to prevent recurrence of the grafted kidney or extension to other organs. The curative efficacy of colchicine on flares is debatable, although several studies report positive results against progression of early amyloidosis.

Regression of cutis calcinosis with diltiazem in adult dermatomyositis.

Calcinosis cutis is common in several connective tissue diseases such as dermatomyositis, scleroderma or lupus erythematous. In dermatomyositis, it is more likely to concern children than adults but it is not exceptional in adults. Several treatments have been used empirically with inconsistent success. We report a case of adult cutis calcinosis associated with dermatomyositis which responded dramatically to treatment with diltiazem.

[Bone marrow reconversion and magnetic resonance imaging: case report]. / Le phénomène de reconversion médullaire et son aspect en imagerie par résonance magnétique : à propos d'un cas.

INTRODUCTION: Bone marrow is divided into red marrow mainly constituted of hemopoietic cells and fatty yellow marrow. In some situations, yellow marrow may be converted into red marrow and this process is called marrow reconversion. Magnetic resonance imaging may be misleading with an invading bone marrow neoplastic process. EXEGESIS: We report a patient with non-Hodgkin's lymphoma with vertebral invasion. Clinical features at presentation were misleading with lower limbs migratory pain suggestive of inflammatory myositis. An MRI study of thigh muscles revealed femoral nodular lesions suggestive of bone marrow reconversion. CONCLUSION: Bone marrow reconversion is a physiologic and reversible process. Awareness of its radiographic features may help to avoid a diagnostic biopsy procedure.

[Livedoid vasculopathy (white atrophy) associated with anticardiolipin antibodies]. / Vasculopathie livédoïde (ou atrophie blanche) associée à la présence d'anticorps anti-cardiolipines.

BACKGROUND: Livedoid vasculopathy is an uncommon condition that affects young patients. It must be clinically distinguished from cutaneous vasculitis. CASE REPORT: A 27-year-old man presented pain and skin eruptions involving the lower limbs, hands and trunk. The skin eruption predominated on the feet with purpuric lesions producing a livedoid pattern, ulcerations on both ankles and white atrophic scars on the dorsum of the feet. Skin biopsy showed dermic vessel thrombosis without leukocytoclasia. These features favored livedoid vasculopathy rather than vasculitis. Anticardiolipin antibodies were positive. The patient was started on antithrombotic therapy. The skin ulcerations regressed and no recurrence has been observed at 7-months follow-up. DISCUSSION: Livedoid vasculopathy is characterized by painful purpuric lesions that generally occur on the lower limbs, and frequently ulcerate and heal leaving porcelain white atrophic scars (atrophic blanche). The histology evidences a thrombotic process. Livedoid vasculopathy is normally described as occurring as a sole entity, however thera have been reports of an association with anticardiolipin antibodies. This suggest a possible link with antiphospholipid syndrome.

[Pneumatosis cystoides intestinalis in systemic diseases: 3 cases]. / Pneumatose kystique intestinale au cours d'une maladie systémique. 3 observations.

BACKGROUND: Pneumatosis cystoides intestinalis (PCI) is usually a complication of digestive tract or respiratory tract diseases, but rare cases have been described in systemic diseases, mainly systemic sclerosis. CASE REPORTS: Three patients, one with temporal arteritis and two with polyarteritis nodosa (complicating rheumatoid arthritis in one case) were treated by prednisone. All three developed PCI, complicated in one case by a retropneumoperitoneum. Medical treatment led to a favorable outcome in all cases. DISCUSSION: Sixty-two cases of PCI have been reported in patients with various systemic diseases (systemic sclerosis, systemic lupus erythematosus, mixed connective tissue disease, dermatopolymyositis, polyarteritis nodosa, rheumatoid arthritis, Sjögren's syndrome, amyloidosis). Systemic sclerosis is the most frequent condition (45%). In the other cases, corticosteroid therapy or digestive tract vasculitis are the main causal factors. Outcome is usually favorable with medical treatment. Laparotomy is rarely needed.

[Pneumatosis cystoides intestinalis]. / Pneumatose kystique intestinale.

AIR-FILLED CYSTS: Pneumatosis cystoides intestinalis (PCI) is a benign air-filled cystic formation lying in submucosal or subserous digestive tissue. PCI has been reported all along the digestive tract. CLINICAL SIGNS: Manifestations of PCI vary greatly. Some cases are asymptomatic, while others are revealed by abdominal pain or pneumoperitoneum. Outcome is usually favorable. EXPLORATION: The plain radiogram of the abdomen shows gaseous cysts of various forms lying between the liver and the diaphragm. Pneumoperitoneum may be present. Computed tomography is the ideal diagnostic test. Endoscopy may be useful for colonic localizations. PATHOGENESIS: Many causes have been suggested and debated. Fifteen percent of all cases of PCI are idiopathic. In the other cases, digestive tract or respiratory tract diseases, are usually the underlying cause. Exceptionally systemic disease may be associated with PCI, particularly systemic sclerosis. TREATMENT: Surgery should be reserved for particularly severe cases.

Osteoclastoma-like giant cell tumor of the renal pelvis associated with papillary transitional cell carcinoma.

This report documents an uncommon case of osteoclastoma-like giant cell tumor of the renal pelvis associated with papillary transitional cell carcinoma, which resulted in the patient's death. A low-grade transitional papillary carcinoma associated with a prominent osteoclastoma-like giant cell tumor was found in the pelvicalyceal system of the right kidney in a 69-year-old man. The spindle component of the tumor stained for epithelial membrane antigen, indicating an epithelial origin. Positive staining with antibody against p53 protein was observed in both tumoral components. Our results suggest that this osteoclastoma-like giant cell tumor was truly neoplastic and that the two components could have arisen from an initial monoclonal neoplastic proliferation.