+49A/G polymorphism of cytotoxic T‐lymphocyte antigen 4 gene in type 1 autoimmune hepatitis and primary biliary cirrhosis: A meta‐analysis

Aim: Recently, the associations of +49A/G polymorphisms of cytotoxic T‐lymphocyte antigen 4 (CTLA‐4) gene with the susceptibility to type 1 autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) have been reported; however these associations are yet to be fully elucidated. This study aimed to identify the associations of CTLA‐4 gene +49A/G polymorphisms with the susceptibility to type 1 AIH and PBC by using a meta‐analysis. Methods: PubMed was searched by using the following keywords: “autoimmune hepatitis AND (polymorphism OR polymorphisms)” or “primary biliary cirrhosis AND (polymorphism OR polymorphisms)”. Meta‐analyses of five studies including 526 patients with type 1 AIH and 631 controls and seven studies including 1500 patients with PBC and 2345 controls were performed. Results: For type 1 AIH, the odds ratio (OR) of G allele was 1.26 [95% confidence interval (CI) 1.06–1.51] although G/G homozygosity was not associated with the susceptibility to type 1 AIH. On the other hand, the OR of A/A homozygosity for type 1 AIH was 0.66 (95% CI 0.50–0.86). For PBC, the OR of G allele was 1.20 (95% CI 1.06–1.34). Furthermore, G/G homozygosity was significantly associated with the susceptibility to PBC (OR 1.29, 95% CI 1.01–1.66). The OR of A/A homozygosity for PBC was 0.81 (95% CI 0.70–0.94). Conclusions: This study suggests that CTLA‐4 gene +49A/G polymorphisms may be associated with the susceptibility to type 1 AIH and PBC. Especially, while G/G genotype may be associated with the susceptibility to PBC, A/A genotype may be protective against type 1 AIH and PBC.     

Frequency and clinical correlates of retrocollis in Parkinson's disease

PurposeTo investigate the incidence of retrocollis and to determine its clinical correlates in patients with idiopathic Parkinson's disease (PD).MethodsSeventy-four patients with PD at Hoehn and Yahr stage 5 were examined for abnormal neck postures and were classified according to neck posture. Differences in age, age at PD onset, disease duration, years from PD onset to Hoehn and Yahr stage 5, cognitive state, the levodopa equivalent dose (LED) for dopaminergic drugs, and rigidity of the neck and upper and lower extremities were examined to determine the clinical correlates of abnormal neck posture. We also evaluated retrocollis in 356 patients with PD at Hoehn and Yahr stage 1, 2, 3, and 4 and 65 age matched normal controls.ResultsOf the 74 patients with PD at Hoehn and Yahr stage 5 examined, 21 (28.4%) had retrocollis, 3 (4.1%) had antecollis, and 1 (1.4%) had antecollis and torticollis. Whereas, only one patient had retrocollis in PD patients at Hoehn and Yahr stage 4 and under. Patients with antecollis were significantly younger than those with normal neck posture and retrocollis. There were no differences in age at PD onset, disease duration, sex, years from PD motor symptom onset to Hoehn and Yahr stage 5, cognitive state, or LED between patients with and without abnormal neck postures. Neck rigidity scores were significantly higher in patients with retrocollis and antecollis than in those with normal neck posture.ConclusionsRetrocollis is not rare in patients with PD at Hoehn and Yahr stage 5, and the incidence appeared to increase as axial rigidity increased.     

Sebaceous carcinoma within rippled/carcinoid pattern sebaceoma

Although the histogenesis of sebaceous carcinomas remains unclear, the occurrence of intraepidermal or intraepithelial sebaceous carcinoma in the epidermis or conjunctiva may suggest de novo histogenesis. This report describes a case of sebaceous carcinoma within preexisting rippled/carcinoid pattern sebaceoma. This lesion was composed of two (benign and malignant) components, and the benign component of the lesion showed the typical features of a rippled/carcinoid pattern sebaceoma. Although evidence of trauma as well as a vertical orientation was seen in this lesion, the malignant component of the lesion showed histopathological evidence of malignancy (sebaceous carcinoma), such as the aggregations with irregular and infiltrated borders, a sheet‐like growth pattern, and the cytopathological findings of the neoplastic cells, showing a high‐grade of malignancy (a high mitotic index and abnormal mitotic figures). The immunohistochemical staining for p53, Ki‐67 and D2‐40 also favored this diagnosis. This sebaceous carcinoma component was considered to be the incipient stage of carcinoma within preexisting sebaceoma, therefore, it was still considered to be a vertically oriented lesion. This case shows the possibility that abnormal (malignant) sebaceous germinative cells may originate within a sebaceoma, thereby suggesting that some sebaceous carcinomas may develop from preexisting sebaceomas.     

Malignant Inferior Vena Cava Syndrome and Congestive Hepatic Failure Treated by Venous Stent Placement

A 65-year-old woman with liver metastases from colon cancer and tumor thrombus extending from the right hepatic vein (HV) to the right atrium (RA) presented with marked lower-extremity edema and massive ascites. Computed tomography showed tumor thrombus completely occluding the inferior vena cava (IVC) and HV ostia. Recanalization of the IVC and HVs was performed. Metallic stents were placed in tandem from the superior vena cava to the IVC through the RA, and additional metallic stents were placed in the left HV. The patient's symptoms were relieved, and there was no recurrence of these symptoms for 19.5 months until death.     

Dermal Melanocytosis of the Helix

Abstract: A 2‐year‐old Japanese boy had a congenital gray‐blue macule involving the right helix along with a few melanotic spots on both sclerae. Histopathology showed dermal melanocytosis. Q‐switched alexandrite laser treatment induced a good cosmetic response. This patient shows the overlap between Ota and Ito nevi, and we suggest dermal melanocytosis is better used as a generic term for these unusual pigmentations.