Peripheral arterial coil embolization for hepatic arteriovenous malformation in Osler-Weber-Rendu disease; useful for controlling high output heart failure, but harmful to the liver.

A 55-year-old Japanese housewife, who had Osler-Weber-Rendu disease, was admitted to our hospital because of frequent epistaxis and worsening exertional dyspnea. The computed tomography and hepatic arteriography revealed large hepatic arteriovenous malformation, which was considered to be the leading cause of her high output heart failure. Two series of hepatic arterial coil embolization procedures were performed to reduce hepatic shunt flow. They temporarily improved her cardiac condition, but gradually induced progressive hepatic failure due to intrahepatic cholangitis. Hepatic dysfunction restricted her quality of life and lead to a fatal clinical course one year after the second coil embolization.

Angiokeratoma corporis diffusum associated with galactosialidosis.

We describe a 34-year-old Japanese man with generalized angiokeratomas and various neurological symptoms since childhood. A number of reddish papules were scattered over his entire body and were especially numerous on his elbows, knees, penis and scrotum. An electron-microscopic study revealed a number of vacuoles in the cytoplasm of the vascular endothelial cells. This finding suggests that the angiokeratomas resulted from an injury of the endothelial cells due to the storage of metabolic material. A laboratory examination demonstrated a deficiency of both the beta-galactosidase and neuramidase activity in his leukocytes and fibroblasts. A restriction site analysis of PCR-amplified genomic DNA revealed that the patient had an mRNA splicing junction mutation at the 5' donor splice site of the exon 7/intron 7 junction in the protective protein gene.

[Expression of epidermal growth factor receptor in squamous cell carcinoma of the head and neck].

Localization of epidermal growth factor receptor (EGFR) was investigated immunohistologically in 68 untreated patients with squamous cell carcinoma of the head and neck regions. These patients consisted of 16 with cancer of the lips and mouth, seven with mesopharyngeal cancer, six with epipharyngeal cancer, 15 with hypopharyngeal cancer, 10 with laryngeal cancer, 12 with maxillary cancer and two with other tumors (cancer of the auricle and cancer of the eyelid in one patient each). The patients consisted of 57 men and 11 women, with a mean age of 60 years. In cases with a normal oral mucosa, marked expression of EGFR was observed in the epithelial cell membrane, while expression decreased toward the luminal surface. Cancer cells also showed positive staining of EGFR in all patients, but the intensity of staining was inconsistent among them. Among the 32 patients in whom the staining intensity of EGFR was equal to or weaker than that in basal cells of the normal oral mucosa, 12 patients had lymph node metastasis. Twenty-eight of the 36 patients in whom the staining was stronger than that in the normal cells had lymph node metastasis, suggesting that overexpression of EGFR in carcinoma cells is a risk factor for lymph node metastasis of head and neck cancers (P < 0.005). On the other hand, there were no obvious relationships between either the size or the degree of keratinization of the primary lesion and EGFR expression.