Testicular epidermoid cyst in Klinefelter''s syndrome

A 38-year-old Japanese man was referred to our outpatient clinic for treatment of infertility. Semen analysis showed azoospermia. Chromosome analysis revealed a 47XXY karyotype, and non-mosaic Klinefelter's syndrome (KFS) was diagnosed. Upon physical examination, the patient's right testicular volume was 30 mL and the left testicular volume was 3 mL. Laboratory tests showed normal levels of lactate dehydrogenase, alpha-fetoprotein, and human chorionic gonadotropin beta-subunit. The plasma luteinizing hormone and follicle-stimulating hormone levels were increased to 15.7 mIU/mL and 45.9 mIU/mL, respectively. The plasma testosterone was decreased to 0.25 ng/mL. Magnetic resonance imaging showed a right testicular mass of low-signal intensity on the T1-weighted image and of high-signal intensity on the T2-weighted image. Therefore, the final diagnosis was KFS with a right testicular tumor. Thus, a right high orchiectomy was performed. Histological examination revealed an epidermoid cyst of the right testis. Epidermoid cysts in cases of KFS are rare. To our knowledge, only seven cases, including ours, have been reported in the literature.     

Growth Curves for Intracranial Volume and Two-dimensional Parameters for Japanese Children without Cranial Abnormality: Toward Treatment of Craniosynostosis

In the management of patients with craniosynostosis, it is important to understand growth curve of the normal cranium. Although three-dimensional (3D) computed tomography (CT) images taken in thin slices are easily available nowadays, data on the growth curves of intracranial volume (ICV), cranial length, cranial width, and cranial height in the normal cranium are mainly based on older studies using radiography, and there are insufficient reports using CT images especially taken in thin slices. The purpose of this study was to establish growth curves in the normal cranium of Japanese children using thin-slice images. Cranial images of 106 subjects (57 males, 49 females; aged 0–83 months) without significant cranial abnormalities were retrospectively analyzed. Using thin-slice CT images, the ICV and two-dimensional parameters such as cranial length, cranial width, and cranial height were measured by iPlan, followed by generating growth curves and calculating cephalic index (CI). ICV calculated from thin-slice CT images was compared with that obtained by substituting two-dimensional parameters into Mackinnon formula. The ICV growth curves for males and females were similar in shape. As with the ICV, the two-dimensional parameters increased most rapidly in the first year after birth. There was no significant difference in CI between the sexes or among any age groups. ICV calculated from thin-slice 3D CT images was 60% of that obtained from Mackinnon formula. These data will enable us to compare these specific measurements in craniosynostosis patients directly with those of normal children, which will hopefully help in managing these patients.     

Detection of Helicobacter pylori Gene by Means of Immunomagnetic Separation-Based Polymerase Chain Reaction in Feces

Background: Detection of Helicobacter pylori is usually performed by culture, polymerase chain reaction (PCR), histology, or urease test on gastric biopsy samples. Although methods based on feces are non-invasive, their sensitivity has been relatively low. In this study, to improve its sensitivity, immunomagnetic separation (IMS) was used as a pre-PCR step for direct detection of H. pylori in feces. Methods: Fresh fecal samples were taken from 72 patients attending for endoscopy. Of these, 57 patients had a positive H. pylori status according to the results of culture, histology, and PCR on gastric biopsy samples. Anti-H. pylori antibody-sensitized immunomagnetic beads were used to concentrate the bacteria. PCR was then performed to detect the H. pylori urease A-encoding gene. Results: Of the 57 H. pylori-positive patients, 35 (61.4%) had positive fecal samples by IMS-based PCR method. None of the 15 H. pylori-negative patients had positive fecal samples. The sensitivity of this method was 61.4%, and the specificity 100.0%. Conclusions: This study confirms that non-invasive diagnosis of H. pylori infection could be made from feces by using IMS-based PCR.     

Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients

Dermoscopic analysis of skin tumor has been mainly focused on pigmented structures. Recently, several different morphological types of vessels were found to be well associated with pigmented or non‐pigmented skin tumors in white subjects. Therefore, the recognition of such vascular structures has been applied for diagnostic purposes. As little statistical information on the various pigmented skin tumor vessels of Japanese patients has been reported, we therefore tried to evaluate the association between various vascular structures and 741 tumor lesions of Japanese patients. Vascular structures were dermoscopically recognized in 41 of 102 cases of melanoma, 104 of 119 basal cell carcinoma (BCC), 86 of 257 seborrheic keratosis (SK), 35 of 210 dermal and compound nevus (DN/CN), six of 12 squamous cell carcinoma (SCC) and 16 of 41 Bowen disease (BD). The structures of arborizing and glomerular vessels statistically revealed diagnostic specificity for BCC and BD, respectively, and hairpin vessels were helpful for differentiating SK from other pigmented tumors, as already reported in white patients. The most common vascular pattern observed in melanoma was the linear–irregular structure, but this pattern in Japanese patients had less diagnostic value than in white patients, because its sensitivity was not significantly higher than in SCC. The most remarkable differences between our study and previous reports with white patients were low frequency and sensitivity of dotted, comma and polymorphous vessels in lesions of melanoma, BCC and DN/CN; these vessels had less diagnostic value for Japanese patients. Finally, the frequency of vascular structures observed in melanoma rose along with the increase of the Breslow’s tumor thickness, and 88% of melanomas with vascular vessels revealed tumor thicknesses of more than 2 mm.     

Dyschromatosis symmetrica hereditaria associated with neurological disorders

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). It is characterized by a mixture of hyper‐ and hypopigmented macules on the back of the hands and feet. The pathomechanism by which the ADAR1 gene mutation induces DSH has not been clarified yet. We experienced an 11‐year‐old male DSH patient associated with dystonia, mental deterioration and brain calcification, who had a mutation of p.G1007R in the ADAR1 gene. This mutation had already been reported in a patient with similar neurological symptoms by Tojo et al. Additionally, a patient with DSH associated with torsion dystonia was reported by Patrizi et al., but gene analysis was not carried out. Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms. Therefore, we suggest that neurological disorders rarely develop in DSH.     

Successful topical hemotherapy with a new occlusive dressing for an intractable ulcer on the toe

Topical hemotherapy is a method of applying heparinized venous blood directly onto the surface of an ulcer, which is covered with an occlusive hydrocolloidal dressing. It is often effective on chronic ulcers with thick necrosis, because some proteinases and growth factors in plasma are probably involved in the digestion of necrotic tissues and the acceleration of granulation and epithelization. We treated a patient with an intractable ulcer on the toe caused by a peripheral circulatory disturbance due to her systemic sclerosis. As conventional topical hemotherapy cannot be applied to ulcers on the round tip of a toe, we made a device for occlusive dressing of topical hemotherapy which could successfully improve the previously refractory ulcer.     

Human herpesvirus-6-associated exanthema in a patient with acute lymphocytic leukaemia

We report the first case of human herpesvirus-6 (HHV-6) associated exanthema in a patient with acute lymphocytic leukaemia (ALL). We analysed DNA extracted from an exanthematous lesion using the polymerase chain reaction (PCR). DNA was positive for HHV-6 but negative for herpes simplex virus, varicella zoster virus, and cytomegalovirus. Immunohistochemical staining of the skin with monoclonal antibody against HHV-6 confirmed the infection. The possibility of HHV-6 infection should be considered when an atypical skin rash is seen in patients with ALL.     

Haemophagocytic syndrome associated with Epstein-Barr virus infection and promoted by tuberculosis reactivation in a patient undergoing chronic haemodialysis

SUMMARY: A 73-year-old man who had been undergoing chronic haemodialysis (CHD) for 3 years developed haemophagocytic syndrome (HPS) that might have been triggered by Epstein-Barr virus (EBV) infection. the patient finally died of miliary tuberculosis (TB) reactivation that promoted the progression of HPS. Immunological abnormalities in patients undergoing CHD may be notable. the early diagnosis of TB reactivation may be important for reducing the mortality in cases of HPS, as a high incidence of TB is encountered in patients undergoing CHD. In contrast, the simultaneous occurrence of an EBER-positive hybridization signal with T cell-specific immunolabelling of CD45RO cells was well detected in the spleen and lymph nodes, and interferon gamma was elevated in the serum. These findings coincide with the reported preferential expansion of T cells rather than B cells in EBV infection, and support the hypothesis that systemic hypercytokinaemia caused by the proliferation of EBV-infected T cells may play a crucial role in the development of HPS.     

A Case of Crohn's Disease which Initially Presented with Diffuse Inflammation in the Rectum and Sigmoid Colon

Abstract: This case report describes a female patient with Crohn 's disease who had diffuse proctosigmoiditis without a longitudinal ulcer or cobblestone appearance at the initial attack. She was treated with sulfasalazine on the presumptive diagnosis of ulcerative colitis. Two and a half months later, painful ulcers in the oral cavity and a deep longitudinal ulcer in the sigmoid colon were found, and a non-caseous granuloma was revealed in the biopsy specimens taken from the sigmoid colon. A definitive diagnosis of Crohn's disease was established from these findings and treatment with a corticosteroid was effective.