In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.

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Histopathologie observations of 9,10-dimethyl-l ,2-benzanthraeene (DMBA)-indueed tumors in the motise submandibular glands are reported using eryoprobe treatment. The experimental animals were divided into 2 groups; one received a eaieinogen iitjection into the normal submanditiular gland, and the other was injeeted with DMBA on the 14th day following cryosurgety of the gland using a -60°C eryoprobe. Pathologie findings were elassified as premalignant lesions or squamous-cell eareinomas with varying degrees of keratiiiizalion, fibrosarcoma and mixed carcinoma. There was also one case eaeh of malignant pleomorphie adenoma and eystie adenoma. Tumor incidenee was nearly the same in the 2 groups. Most of the catcinomas and sareottias in the submandibular gland were induced during the 12th and 17th weeks. DMBA application during the proliferating stage which followed the etyosutgety did not enhance epithelial-tumor itiduction. During submandibular gland eareinogenesis, alterations in the granular convoluted tubule eells suggests they were the initial target eells undergoing malignant ttansfonnation. St|uamous-eell careinottias with varying degrees of keratinization were indueed following squamous metaplasia in duet4ike struetures or multieystic lesions.

Immunohistochemical identification of factor VIII related antigen (F VIII RAG) filament proteins (actin, myosin, filamin, vimentin and desmin) and lectin binding patterns of Con A, PNA, SBA, WGA, RCA-1, UEA-1 and DBA in the endothelial cells and the muscular layers of haemangiomas and normal blood vessels are reported, using paraffin sections with the HRP method. The endothelial cells of haemangiomas were usually strongly positive to F VIII RAG as were those from capillary vessels and other small vessels. Some of the endothelium from haemangiomas and angiokeratomas was negative for factor VIII. The vessel walls of hemangiomas showed staining slightly positive for microfilaments (actin, myosin, filamin). The smooth muscle layer in small vessels showed a more marked staining with actin. Vimentin and desmin reactions in the vessel walls of haemangioma and in normal vessels were slight or moderate. UEA-1 lectin binding was constantly positive in endothelial cells from hemangiomas and in blood vessels. SBA and WGA binding appeared in the border layer of endothelium in haemangiomas and normal vessels.

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