Colon involvement in systemic sclerosis: clinical-radiological correlations.

About one third of all patients with systemic sclerosis (SS) presents colon abnormalities, although these may be underestimated because they frequently remain asymptomatic for a long time. Thirty-five patients (33 women and 2 men; mean age 56.5 years; mean disease duration 11.9 years) affected by SS (25 with limited and 10 with diffuse pattern of skin involvement) were investigated using barium enema to detect radiological changes in the colon, and to correlate them with other visceral involvement, autoantibody profile, abdominal symptoms and duration of the disease. Ten patients (28.6%) showed X-rays abnormalities (excluding isolated diverticula), wide-mouthed sacculations being the most frequent finding. Our data confirm that the colon is frequently involved in SS, even in the limited form of the disease. The most relevant finding was the dissociation between clinical symptoms and radiological features which proved to be more evident among the patients with limited SS. No correlations were found between the radiological picture and any other parameter, thus suggesting that careful evaluation of the colon should be performed in any patient suffering from the disease.

Platyspondyly in treated beta-thalassemia.

Flattening of the vertebral bodies with a platyspondyly appearance is described in 14 patients selected for evaluation of short stature from 106 patients affected by thalassemia major, who received an intensive transfusion regimen combined with continuous chelation therapy. The vertebral body height/width ratio was decreased at the level of all the investigated tracts, namely, cervical and/or dorsal and/or lumbar. The flattening of the vertebral bodies may be due to suppression of intramedullary hematopoiesis by a high transfusion regimen. The reduced intravertebral pressure due to disturbed hemopoiesis could cause weight-bearing and other biological stresses to provoke a reduction in vertebral body height.

[The evolutionary effects of therapy on the skeletal lesions in beta-thalassemia]. / Effetti dell'evoluzione della terapia sulle lesioni scheletriche nella beta-talassemia.

Up to the mid-1960s, beta-thalassemia was treated with blood transfusions as frequent as needed to keep symptoms under control and to prevent transfusional hemosiderosis. In the following years, high transfusion regimens and iron chelation therapy with desferrioxamine were used. Because of these different treatment modalities, skeletal findings in thalassemia have markedly changed. In the past, thalassemic patients treated with a low transfusion regimen and without chelation therapy developed osteopenia--with widened medullary spaces, cortical thinning and trabecular atrophy--secondary to chronic expansion of red marrow, due to increased erythropoietin response to chronic anemic hypoxia. Typical radiographic patterns in the skull included widened diploic space, atrophic-especially outer--tables and, in some patients, the "hair-on-end" pattern. As for the face, obliteration of the paranasal sinuses and the typical "rodent facies" were observed. In the ribs, bulbous expansion of the posterior and anterior segments and the "rib within a rib" patterns were observed. As for the spine, coarse trabecular arrangement was seen. The "cobweb" pattern was seen in the pelvis and finally the lack of the normal concave outline was observed in the long bones. In the patients treated with high transfusion regimens and iron chelation therapy over the last 30 years, both skull anomalies and disfigurement are less frequent. The skull is almost normal, with the exception of osteopenia and thickened diploic space in the frontal bone only; the paranasal sinuses are usually not obliterated. The hands and rib are normal, just like long bones, pelvis, scapulae and vertebral bodies. Nevertheless, in some adequately treated patients new skeletal features have been recently observed in the long bones, which are similar to those occurring in rickets and/or scurvy, and in the vertebral bodies, resembling platyspondylia. These abnormal features might be caused by several factors--i.e., marrow expansion, transfusion regimens, direct/indirect effects of desferrioxamine, iron load, endocrine abnormalities, deficiency of some minerals and finally dysvitaminoses. Nevertheless, osteopenia remains the main negative factor of thalassemia.

[Anomalies of the masticatory apparatus in beta-thalassemia. The present status after transfusion and iron-chelating therapy]. / Anomalie dell'apparato masticatorio nella beta-talassemia. Stato attuale dopo terapia trasfusionale e chelante del ferro.

Fifty-four homozygous beta-thalassemic patients (26 men and 28 women) aged 7 to 24 years, who had been treated with high transfusion regimen (Hb levels = 9-10 g/dl) and chelation therapy (desferrioxamine, 35-50 mg/kg), underwent clinical and radiographic investigations. This study was aimed at assessing the clinical and radiographic changes in the stomatognathic system (teeth, mandible and maxilla, occlusion relationship and dental bases). All patients underwent orthopantomography and teleradiography of the skull, in the lateral view. Twenty thalassemic patients (13 men and 7 women) of the same age but treated with low transfusion regimes (Hb levels = 5-6 g/dl) were examined as a control group. Our results indicate that: 1) in the control group, osteopenia is the specific lesion of anemia, in both the alveolar process and the mandible, following marrow expansion. Consequently, diastema of incisors and several types of malocclusion follow--i.e., overjet, anterior open-bite and crossbite, nearly all of them associated with II dental and skeletal patterns of Angle's classification. 2) In adequately transfused patients, no lesions are observed in 55% of cases, in both the teeth and the facial skeleton. This means that current treatment methods can prevent bone abnormalities, especially if transfusions begin at birth. Nevertheless, osteopenia of the mandible (31.4%) and dental and/or skeletal malocclusions (40.7%) remain in many cases, because of persistent marrow expansion, which usually follows incorrect treatment. 3) General dental diseases--e.g., caries, paradentosis, gingivitis, etc.--affect both populations with the same incidence.

[The hand in hematologic diseases]. / La mano nelle malattie ematologiche.

Radiography of the hand often reflects the picture of generalized diseases, affecting both the muscolo-skeletal system and the others. Some of the most common hematologic disorders may be detected in roentgenograms of the hand, especially in the anemias, but also in plasma cell dyscrasias and proliferative malignant diseases (i.e., lymphomas and leukemias). On the basis of their experience, the authors have reviewed and discussed the radiographic "pattern" of the hand in several hematologic conditions (i.e., anemias; thalassemias; sickle-cell disease; lymphomas; multiple myeloma; etc.), and their pathogenesis. Radiographies of both the hands, in antero-posterior view, were performed using Kodak-Min R film; xeroradiography was performed--in the same projection--using Rank Xerox plate, developed always in "positive mode" in 125 Rank Xerox System, conditioned with contrast "D", for emphasizing osseous details. Recently, digital radiography--employing PCR system--has substituted xeroradiography, because of its well-known properties and diagnostic advantages: in this manner, changes in bone and soft tissue are demonstrated on the same image, with augmentation of diagnostic information, with reduced dose to patient. In our series, hand is always involved (100% of cases) in thalassemias: lesions are characterized by diffuse osteopenia (washed out melted appearance), with widening of bone marrow space, diaphyseal convex aspect of the long bones, thinning of the cortex, and cyst-like changes (rain drops). Lesions disappear completely after the hypertransfusion regimen (HTR). Following chelation therapy, lesions of the wrist and hand are similar to those described in rickets and/or scurvy. Sometimes, the hand is characteristically affected in sickle-cell disease--particularly in the so called hand-foot syndrome--as "cone-deformity". In multiple myeloma incidence of hand involvement is 2.9%: lesions reflect general abnormalities observed in other skeletal sites, and they consist in multiple well-circumscribed lytic lesions. In amyloidosis, poorly defined radiolucent areas may be discovered. In non-Hodgkin lymphoma, incidence of hand involvement is less frequent, approximately 0.2%: the radiographic pattern is aspecific (mottled lytic lesions), sometimes simulating multiple myeloma and/or leukemias. In hemophilia, swelling of soft tissues, around the interphalangeal joint, related to intra-articular and/or per-articular hematoma, is observed. The other conditions reflect general radiographic features of anemias, which are of three main types: 1. the over active marrow (i.e., polycythemia); 2. the infarction of bone (i.e., sickle-cell disease); 3. non-specific findings, resulting from chronic illness (delays of maturation; dwarfism; osteopenia; tendency to infection).

Clinical and radiological features of bone disease in long-term (15 or more years) hemodialysis patients.

Fifteen patients on regular dialytic treatment for more than 15 years were given X-rays of the skull, spine, shoulders, wrists, pelvis and knees with the purpose of studying the principal skeletal and articular alterations due or not due to the uraemic status. Serum calcium, phosphorus, parathyroid hormone, alkaline phosphatase and basal aluminium were recorded. Osteopenia was evident in all the patients. Ten of whom (67%) showed alterations due to hyperparathyroidism. Nine patients presented the marks of dialysis spondyloarthropathy; in 14/15 cases geodes were present in the wrists, humeral heads or hip-joints; in ten patients there were multiple amyloid lesions. Two patients with serum basal aluminum above 100 micrograms/L showed the typical radiographic marks of osteomalacia. The majority of the long-term survivors showed multifactorial osteo-articular alterations resulting mainly from the combination of hyperparathyroidism and dialysis-related amyloidosis. The less frequent joint alterations were represented by arthrosis, enthesopathy and chondrocalcinosis. Disability and decreased articular mobility resulted in being mainly due to amyloid osteo-arthropathy.

[Platyspondylisis+ in beta-thalassemia major]. / Platispondilia nella beta-talassemia maior.

Platyspondylia was observed in 14 patients affected with thalassemia major (7 males and 7 females, age range: 10-18 years) who received an intensive transfusion regimen combined with continuous chelation therapy (desferrioxamine: 50-80 mg/kg daily). Height/width ratio was decreased at all the investigated tracts--i.e., cervical and/or dorsal and/or lumbar spine. The range of height/width ratio values was 0.41-0.55 at the 5th cervical body, 0.33-0.53 at the 8th dorsal body, 0.43-0.56 at the 12th dorsal body and 0.47-0.62 at the 2nd lumbar body. The flattening of the vertebral bodies seems to be due to the depletion of hematopoetic tissue determined by the high transfusion regimen. The reduced intramedullary pressure is thought to counteract neither weight-bearing nor other biological stresses, which might ultimately provoke the thinning of vertebral bodies.

Growth plate injury of the long bones in treated beta-thalassemia.

In 12 patients affected by thalassemia major who received an intensive transfusion regimen combined with continuous iron chelation therapy (desferrioxamine 50-80 mg/kg daily), radiologic abnormalities of the long bones were observed similar to those observed in rickets and scurvy. These abnormalities were associated with a growth retardation. The pathogenesis of these lesions is uncertain, but probably the toxic effect of desferrioxamine plays an important role in their development. A relative deficiency of vitamins D and/or C cannot be entirely excluded.

[Rickets- and/or scurvy-like bone lesions in beta-thalassemia major]. / Lesioni scheletriche simil-rachitiche e/o scorbutiche nella beta-talassemia major.

Recently, a new type of skeletal lesions has been described in Cooley's anemia as a possible complication secondary to therapy. In 12 children affected with thalassemia major, who received an intensive transfusional regimen combined with continuous iron chelation therapy (desferoxamine-B: 50-80 mg/kg/day), some radiological abnormalities of the long bones were observed similar to those described in rickets and scurvy. These rickets and/or scurvy-like lesions had never been reported before the introduction of high-dose desferoxamine therapy. The pathogenesis of these lesions is uncertain, but the toxic effect of desferoxamine probably plays an important role in their development. The association of growth retardation and rickets and/or scurvy-like skeletal lesions in Cooley's anemia patients may be used as a valuable clinical criterion in long-term chelation management.

[Changes in the small and large intestines in systemic sclerosis]. / Alterazioni dell'intestino tenue e crasso nella sclerosi sistemica.

A series of 21 subjects (2 males and 19 females) affected with systemic sclerosis, was examined by small bowel (oral and intubation methods) and colon enema. The underlying process responsible for abnormalities in the small bowel and colon in systemic sclerosis is a variable and pacthy destruction of the muscularis propria, that produces the structural and functional changes detected on X-ray. Pathologic condition is the same affecting the esophagus. The scout film of the abdomen often reveals colonic distension and fecal impaction, so that it may be quite difficult to prepare adequately the patients for a barium enema. Peristalsis may be virtually absent in short segments, and transit time may be several time longer than that in normal patients. For these reasons, intestinal pseudo-obstruction may appear in systemic sclerosis. The observed radiographic changes are: 1) in the small bowel: a) dilatation of the gut, especially in its proximal portions (duodenum and jejunum), in which the valvulae conniventes are straightened, normal or thinned; b) presence of diverticula, 2-4 cm in diameter, with hemispherical shape without the neck-like opening into the bowel lumen; 2) in the colon, the characteristic finding is an increase in size of individual haustra, forming sacculations or pseudo-diverticula, usually on the antemesenteric border of the transverse colon, better demonstrated on post-evacuation film. Moreover, loss of colonic haustration is also observed associated to colonic elongation and dilatation.