Hyperviscosity syndrome associated with systemic plasmacytosis.

Systemic plasmacytosis is characterized by plasma cell proliferation in multiple organs including skin, and by polyclonal hypergammaglobulinaemia. Hyperviscosity-related retinopathy has never been described with this condition, to our knowledge. We report a case of systemic plasmacytosis in a 49-year-old Japanese woman, who presented with fever, multiple erythematous plaques, hypergammaglobulinaemia, renal failure and bilateral retinal haemorrhage. Reduction of immunoglobulin with oral steroid reversed the retinopathy related to hyperviscosity syndrome. When marked hypergammaglobulinaemia is found in a patient with systemic plasmacytosis, funduscopic examination should be performed to reveal early asymptomatic retinal changes, because the retinopathy is treatable by control of the underlying disease.

A case of acute radiation syndrome from the dermatological aspect.

Accidental whole-body overexposure of radiation occurs very rarely. Radiation exposure causes DNA breaks in the cells and shows various clinical features, which are time dependent, dose dependent and tissue dependent. Neutron rays are more destructive than gamma rays but their actual effect on humans have been under-reported. We observed the time-dependent and the dose-dependent dermatological changes in a patient who was severely irradiated by neutron and gamma rays, with the aim of clarifying the clinicopathological features of severely irradiated skin. The detection of DNA breaks in keratinocytes was performed by the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labelling technique. The degenerative changes of the skin and the re-epithelialization varied in a time dependent and dose dependent manner. DNA breaks were significantly higher in irradiated keratinocytes. Neutron rays caused depth-dependent degeneration of the skin. Evaluation of DNA breaks in the skin cells might be a clue to estimate local dosimetry.

Pseudoscleroderma associated with cancer.

In the period 1994-2002, we saw 71 patients with sclerotic skin changes; 66 were diagnosed with systemic sclerosis (SSc) while five (7%) were diagnosed with pseudoscleroderma associated with various malignancies. The mean duration of disease in these five patients was significantly shorter than that of patients with SSc. The incidence of positive antinuclear antibodies, Raynaud's phenomenon or oesophageal involvement in patients with pseudoscleroderma was significantly lower than that in patients with SSc. The distributions of skin sclerosis varied in each case. Serum basic fibroblast growth factor (bFGF) levels in the five patients with pseudoscleroderma were very elevated compared with levels in controls. Elevated expression of bFGF was detected on fibroblasts of affected skin and in one lung-cancer tissue sample obtained by excision.

Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.

BACKGROUND: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been described in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP. METHODS: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumour cells. Nucleotide sequence analysis was carried out using the PCR product to identify the breakpoint. RESULTS: The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. Sequence analysis revealed that exon 18 of the COL1A1 gene was fused with exon 2 of the PDGFB gene. CONCLUSIONS: This study identified a novel COL1A1 breakpoint, namely, exon 18 of the COL1A1 gene.

Decreased MMP-9 activity in the serum of patients with diffuse cutaneous systemic sclerosis.

Matrix metalloproteinase-9 (MMP-9) and its inhibitor, tissue inhibitors of metalloproteinases-1 (TIMP-1) are involved in tissue inflammation and fibrotic processes. We previously reported an elevated serum TIMP-1 level in patients with systemic sclerosis (SSc). We measured serum TIMP-1 and active MMP-9 levels in 62 patients with SSc, 10 patients with rheumatoid arthritis (RA) and 15 normal controls using a modified enzyme-linked immunosorbent assay. The active MMP-9 level in the serum of the patients with RA or SSc was not significantly different from that of controls. Serum MMP-9 activity in patients with diffuse cutaneous SSc was significantly decreased compared with that of limited cutaneous SSc or normal controls. The MMP-9 activity and modified-Rodnan total skin thickness score in patients with SSc were negatively correlated. Serum MMP-9 activity and TIMP-1 level in patients with SSc were not correlated. Serum MMP-9 activity might be a useful indicator of disease activity, especially skin severity, in SSc patients.

Differential growth regulation in human melanoma cell lines by TIMP-1 and TIMP-2.

We investigated the role of tissue inhibitor of metalloproteinase (TIMP)-1 and TIMP-2 in the growth regulation. Primary (PM-WK and KHm-4), recurrent primary (RPM-EP and RPM-MC), lymph node metastatic (MM-AN, MM-BP and MM-RU), and a visceral metastatic (MM-LH) melanoma cell lines were used. Reverse transcriptase-coupled polymerase chain reaction and Western blotting revealed that all expressed and produced TIMP-1 and TIMP-2 except for PM-WK, which neither expressed nor produced TIMP-1. TIMP-1 and TIMP-2 secretion levels were measured by enzyme-linked immunosorbent assay in supernatants of cells. We found that the TIMP-1 production level was correlated with the cell migration rate. Moreover, TIMP-1 enhanced the cell migration of PM-WK. The growth of the primary melanoma cell lines was stimulated by TIMP-1 and inhibited by TIMP-2. In contrast, the growth of the visceral metastatic melanoma cell line was stimulated by TIMP-2.

Transjugular intrahepatic portosystemic shunt performed in a 2-year-old infant with uncontrollable intestinal bleeding.

Although transjugular intrahepatic portosystemic shunt (TIPS) is widely accepted in adults, there have been few successful reports in infants. The authors describe a 2-year-old boy with postoperative biliary atresia who underwent TIPS for uncontrollable lower intestinal bleeding and achieved hemostasis. Massive melena developed, which was not controlled by conservative therapy and devascularization. A shunt was created between the right hepatic vein and the right portal vein with a 6- x 50-mm Wallstent. After TIPS, the porto-systemic pressure gradient decreased from 15 to 11 mm Hg, and collaterals markedly reduced. He has not had recurrent bleeding for over 7 months. TIPS may be a technically feasible and effective treatment to control intestinal bleeding in infants. However, further experience and long-term follow-up will be required.

Phlebosclerotic colitis: value of radiography in diagnosis--report of three cases.

Three cases sharing the following radiologic features are reported: (a) abdominal conventional radiography-vascular calcifications at the right hemicolon, (b) abdominal computed tomography-colonic wall thickening and venous calcifications, and (c) barium enema examination-luminal narrowing of the right hemicolon and thumbprinting. There were no clinical or laboratory findings suggestive of portal hypertension. The disease entity, "phlebosclerotic colitis," should be differentiated from ordinary ischemic colitis.

Long pedunculated colonic polyp composed of mucosa and submucosa: proposal of a new entity, colonic muco-submucosal elongated polyp.

We encountered 15 patients with colonic polyps showing histologic features that did not belong to any of the known categories. All polyps were elongated and drumstick-shaped, with lengths of 12 to 160 (mean, 29 mm) mm. Histologically, the polyps were covered with normal mucosa and consisted of edematous, loose, fibrous, connective tissues and dense, fibrous submucosal layers, often showing dilation of blood vessels and lymphatics. Although the mechanism of generation of such polyps remains unknown, their elongation may be caused by intestinal motion. Because this kind of polyp has not been described previously outside Japan, we here introduce a new type of polyp, which we have proposed calling the colonic muco-submucosal elongated polyp.

A father and son with Turcot's syndrome: evidence for autosomal dominant inheritance: report of two cases.

Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the father and his son presented with typical Turcot's syndrome without parental consanguinity. This is the first report of a family that is considered to follow an autosomal dominant inheritance. After reviewing 25 documented cases in which the average age of death was 20.3 years old, it was learned that the major cause of death was brain tumor (76 percent) and the minor cause was colon cancer (16 percent). Patients were very young and, therefore, unlikely to have produced a child before their death. These facts seem to support the theory that Turcot's syndrome is an autosomal dominant disorder.

Emergent embolization for control of massive hemorrhage from a splanchnic artery with a new coaxial catheter system.

Emergent superselective embolization with a 3.0 F (1 mm) coaxial catheter and a steerable guidewire was performed in 27 patients with massive hemorrhage from a small-caliber splanchnic artery. Eight patients had intraperitoneal hemorrhage, 3 had hemobilia, 9 had gastric hemorrhage, and 7 had intestinal hemorrhage. Out of 27 patients, 7 had hemorrhage from a splanchnic artery pseudoaneurysm. Complete cessation of bleeding was obtained in all patients initially, but in 3 patients gastric hemorrhage recurred later. Otherwise, there was no rebleeding nor any major complication such as marked infarction of tissue or misplacement of embolic materials. This coaxial catheter system was highly reliable for achieving superselective catheterization in small-caliber arteries, minimizing the volume of infarcted tissue and allowing maximal preservation of splanchnic organic function. We conclude that this system represents a major advance in interventional radiology.

Intraperitoneal hemorrhage from hepatocellular carcinoma: emergency chemoembolization or embolization.

From 1982 to 1990, 38 patients with intraperitoneal hemorrhage from hepatocellular carcinoma (HCC) underwent treatment with emergency embolization with or without anticancer drug and iodized oil. Before emergency embolization, 24 patients had a serum total bilirubin value of 3.0 mg/dL or less (group A) and 14 patients had hyperbilirubinemia, with a serum bilirubin level greater than 3.0 mg/dL (group B). Successful hemostasis was achieved in all patients. The mean length of survival was 165 days in group A and 13 days in group B. A significant correlation (P less than .00003) between serum bilirubin level and prognosis was obtained. While tumor thrombus in the portal vein made the prognosis poor, there was no significant difference in prognosis between groups with and without tumor thrombus (P = .145). Emergency embolization is an effective treatment in patients with intraperitoneal hemorrhage from HCC. The prognosis for patients with HCC depends on the serum bilirubin level before embolization.

Percutaneous embolization of ruptured splanchnic artery pseudoaneurysms.

The usefulness of emergent embolotherapy was evaluated in 17 patients with life-threatening hemorrhage from 18 ruptured splanchnic artery pseudoaneurysms. Complete hemostasis was obtained in 16 out of 17 patients by embolotherapy. Of the 12 initial embolization procedures with permanent embolic materials including stainless steel coils, microcoils, and Ivalon, complete cessation of bleeding was obtained in 11. On the other hand, 6 out of 9 initial embolization procedures with Gelfoam particles failed to halt bleeding, and additional embolization with permanent embolic materials was required. Emergent embolization with permanent embolic materials using superselective catheterization should be considered the initial treatment of choice for ruptured splanchnic artery pseudoaneurysms.

Angiographic management of massive hemobilia due to iatrogenic trauma.

Ten patients with massive hemobilia in shock or preshock status were treated with angiography. The hemobilia had been induced by iatrogenic trauma: biliary drainage in seven patients, and surgery, liver biopsy, and angiography in one patient each. Angiography was performed on all patients. Embolization was performed in nine, and in the one remaining patient, spasm of the right anterior hepatic artery and catheter manipulation injured the intima and obliterated the artery. In seven patients with hepatic artery pseudoaneurysm, gelfoam particles were injected in five, however, extravasation could not be prevented in four of these patients. Permanent embolic materials were added and complete hemostatis was obtained. Hemobilia never recurred in any patient. Emergency embolization should be considered as the initial treatment of choice for hemobilia and when pseudoaneurysms are discovered, they should be obliterated by permanent embolic materials. Moreover, tumor thrombus in the portal vein is not a contraindication for this procedure.