Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones.

Second-semester ultrasonography of a female fetus documented short femora and humeri and dislocation of the radii. Based on the clinical and postmortem radiological findings, autosomal-recessive omodysplasia was diagnosed. The physeal plates of the long tubular bones were assessed by computer-assisted image analysis. The dimensions and orientation of the chondrocytic lacunae in the physeal plates of the omodysplastic fetus were compared with those in the physeal plates of fetuses without gross limb abnormalities (oligohydramnios, n = 2; hydrocephalus, n = 2; Down syndrome, n = 1). The pathological characteristics of the omodysplastic physeal plates were an expanded zone of proliferating cartilage and an increased number of closely packed, small chondrocytes. We propose that a genetic, functional deficiency of the physeal cells, underlying the short-limbed dwarfism of autosomal-recessive omodysplasia, is partially compensated, albeit ineffectively, by an increased number of small chondrocytes in the proliferating zone of the physeal plate.

Acute neutrophilic myositis in Sweet's syndrome: late phase transformation into fibrosing myositis and panniculitis.

Early in the course of myeloblastic leukemia a patient concurrently developed febrile neutrophilic dermatosis and sterile acute myositis. The dermatitis and myositis were unresponsive to antibiotic therapy but remitted within a few days of institution of steroid treatment. The patient died of myocardial infarction. At autopsy the dermis was normal. Previously effected muscles were scarred. The overlying fascia and subcutaneous septa were fibrotically thickened. In addition, segmental acute aortitis was detected. Acute myositis and aortitis may reflect further organ manifestations of the Sweet's reactivity pattern. It is proposed that Sweet's myositis and dermatitis may evolve into a fibrosing myositis and panniculitis.

Case report: lymphadenopathy, perinodal granulomatosis, and immunologic aberrations.

The authors report on a patient with an undescribed constellation of lymph nodal plasmacytosis, perinodal epithelioid cell granulomas and fibrosis as well as anti-Sm and anti-phospholipid antibodies. The illness does not meet the criteria of well-known nosologic entities, but it is thought to represent an unrecognized nosological entity within the group of undifferentiated immune disorders.

Downslope claudication in eosinophilic fasciitis: a fourth type of claudication--case presentations.

Two patients who presented with discomfort in the calves while walking down a slope were diagnosed as suffering from eosinophilic fasciitis of the lower limbs. Following therapy of the underlying disease, this peculiar discomfort remitted concomitantly with the disappearance of the subcutaneous abnormalities. The authors posit that downslope claudication of the calves in eosinophilic fasciitis constitutes an additional variant of claudication of the lower limbs.

Liposarcoma of the larynx.

Liposarcomas of the larynx are very rare. Only nine cases appear to have been recorded in the English literature. An additional case of liposarcoma of the larynx occurring in a young patient is reported and the relevant literature discussed.

Intrahyoid thyroglossal cyst.

A rare case of an intrahyoid thyroglossal duct cyst in a 63-year-old woman is reported. The pertinent literature is discussed.

[Supravoltage irradiation as a cause of maxillary fibrosarcoma].

Therapeutic doses of supravoltage radiation are not commonly thought to be carcinogenic and post-irradiation fibrosarcoma of the head and neck regions is rare. We present a 43-year-old man with post-irradiation fibrosarcoma of the maxilla, who had had supravoltage radiation 12 years before for nasopharyngeal carcinoma.

Acute cor pulmonale due to tumor cell microemboli.

Severe pulmonary hypertension due to tumor cell microemboli or lymphangitic carcinomatosis is a rare complication of malignant disease. In most of the reported cases, a clinical picture of subacute cor pulmonale developed. A 57-year-old man with deep vein thrombosis in his left calf developed acute progressive dyspnea with hypoxemia, cyanosis and the clinical picture of acute cor pulmonale, while he was on full heparinization. Respiratory failure with the need for mechanical ventilatory support developed within 2 days. Chest radiography revealed the development of acute cardiac enlargement, dilated pulmonary artery and diffuse opacities in the fields of both lungs. Open lung biopsy disclosed massive tumor cell microemboli and lymphangitic carcinomatosis. No parenchymal metastases were found. This case is extremely rare because of the rapid development of the patient's respiratory signs and symptoms of acute cor pulmonale due to pulmonary tumor cell microemboli and lymphangitic carcinomatosis. It is also most atypical because of the rare pulmonary radiographic presentation.

Diffuse hemangiomatosis of the spleen: splenic hemangiomatosis presenting with giant splenomegaly, anemia, and thrombocytopenia.

In an elderly patient with oligosymptomatic giant splenomegaly, clinical and laboratory data were nondiagnostic, while nonhomogeneous splenic enlargement was the only finding detected by imaging procedures. Splenectomy was performed and diffuse hemangiomatosis of predominantly capillary-type found. The failure of imaging techniques to even hint at the nature of the underlying disorder is comprehensible in view of the organ being essentially replaced in toto by the abnormal vascular channels. Diffuse splenic hemangiomatosis, a rare condition, may cause hypersplenism, and its diagnosis may be elusive because of misleading patterns on imaging.

Colonic diverticulitis-related exuberant granulomatous reaction in a patient with sarcoidosis.

A patient with long-standing sarcoidosis underwent partial colectomy for diverticular disease. Whereas sarcoid granulomas were rare in the otherwise normal colonic mucosa, an unusually large number of granulomas were scattered within the chronically inflamed peridiverticular tissues. It is suggested that in the framework of the sarcoidotic background, activated macrophages, being nonspecifically attracted to areas of inflammation, elicit an exuberant sarcoid granulomatous response. Our observation represents a previously undescribed variant of the "homing" phenomenon in sarcoidosis, unrelated insults inducing formation of granulomas in overabundance.

Granulomatous lipophagic panniculitis and temporal arteritis in a patient with cryptogenic chronic active hepatitis.

An elderly woman receiving long term treatment with prednisone and azathioprine for cryptogenic chronic active hepatitis developed granulomatous lipophagic panniculitis and temporal arteritis. The lymphoplasmahistiocytic inflammatory reaction pattern is common to this patient's three diseases. It is suggested that an aberration of the defence mechanisms, immunological or otherwise, is responsible for this unusual occurrence. The triple association of chronic active hepatitis, granulomatous panniculitis and temporal arteritis has not been reported previously.

Familial Caffey's disease and late recurrence in a child.

Cortical Infantile Hyperostosis (Caffey's disease) is a benign and self-limited disorder. Late recurrence or persistence of symptoms with deformity seems exceedingly rare. Its occurrence in isolated cases or in multiple members in families suggests the existence of two different forms, namely a sporadic form and a familial form. The tibia is the predominant bone known to be affected in the familial form, while the mandible is mostly affected in the sporadic form. The different pathological processes found in these two forms add further to the heterogeneity of this disorder. We describe an Arabic-Christian, non-consanguineous family with two affected sibs. In one, recurrent Caffey's disease was diagnosed at the age of 11 years.

Treatment with cimetidine of atypical fasciitis panniculitis syndrome.

Three patients presented with septal fasciitis and panniculitis, associated with clinical and laboratory features which precluded straight-forward classification into eosinophilic fasciitis, localised scleroderma, or lupus erythematosus profundus. Treatment with cimetidine caused the remission of cutaneous manifestations and the extracutaneous abnormalities, such as nailfold capillary disturbances and the presence of antithyroid antibodies, improved. It is concluded that features of eosinophilic fasciitis or localised scleroderma and certain additional atypical elements should be categorised as atypical fasciitis-panniculitis syndrome.

Cancer-associated fasciitis panniculitis.

BACKGROUND: Eosinophilic fasciitis and the related fasciitis panniculitis syndrome (FPS) are the clinical and morphologic expression of a variety of disorders, of which chronic inflammation and fibrous thickening of the subcutaneous septa, fascia, and perimysium are common. FPS in patients with cancer has been reported sporadically. METHODS: In the course of our studies of FPS we have encountered three patients who had an associated neoplasia. Nine reports of patients have been taken from the literature. The clinical and histologic data of FPS in the 12 patients were analyzed in the search of distinctive features from FPS in patients with no evidence of malignancy. RESULTS: Among patients with cancer-associated FPS there was a female predominance (8 patients), predilection for hematolymphatic malignancies (9 patients), precedence of the FPS to cancer diagnosis (10 patients) by a median lag time of 1 year, and unresponsiveness to prednisone therapy in most patients (7 of 8 patients). CONCLUSIONS: Cancer-associated FPS has several characteristics of a paraneoplastic syndrome: it occurs at a distance from the tumor, certain types of tumors are overrepresented among patients with FPS, it evolves in concert with the neoplasia, and it sometimes remits after successful cancer surgery. In contrast to idiopathic FPS, cancer-associated FPS shows a female predominance, and it usually fails to respond to corticotherapy.

Massive subcapsular fibrosis of the liver: ultrasonic and computed tomographic characteristics.

Massive and diffuse subcapsular fibrosis of the liver was detected in two patients with chronic liver disease. The subcapsular layer consisted of inflamed fibrous tissue containing rare portal tracts and myriads of bile ducts, indicating loss of subcapsular hepatocytes and their replacement by connective tissue. In the early evolutive phase, massive and diffuse subcapsular fibrosis of the liver appears on computed tomography (CT) scan as a low-density band, which merges with the hepatic parenchyma and is enhanced by contrast on dynamic imaging; it is undetectable by ultrasonography. In the advanced phase, it is easily recognizable by ultrasonography as a perihepatic sonolucent band and by CT scan as a low-density band, which is well demarcated from the hepatic parenchyma and is not enhanced with the dynamic technique.