Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

Two separate nodules of Merkel cell carcinoma occurring concomitantly on one cheek

Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroectodermal carcinoma arising from mechanoreceptor Merkel cells. Multiple MCCs are even rarer. We report a case of two independent MCCs simultaneously present in the cheek of a patient, which were effectively and esthetically treated using a cheek flap. Punch biopsy performed in a 60-year-old woman admitted with a chief complaint of two skin-colored hard nodules in her left cheek, accompanied by an itching sensation, was suggestive of MCC. Accordingly, we performed sentinel lymph node biopsy through the modified Blair incision under general anesthesia, in cooperation with the head and neck surgery department. The defect was covered with a cheek flap by slightly extending the existing incision following wide excision with a safety margin of 1 cm. This paper is significant in that it introduces an effective reconstruction technique that maintains function using a cheek flap for the management of this rare case. In addition, this paper is the first to classify multiple MCCs according to the time of onset. We believe that this paper presents an effective alternative reconstruction technique with sentinel node biopsy through the modified Blair incision.

Inter-observer Reproducibility in the Pathologic Diagnosis of Gastric Intraepithelial Neoplasia and Early Carcinoma in Endoscopic Submucosal Dissection Specimens: A Multi-center Study / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The diagnostic criteria of gastric intraepithelial neoplasia (IEN) are controversial across the world. We investigated how many discrepancies occur in the pathologic diagnosis of IEN and early gastric carcinoma in endoscopic submucosal dissection (ESD) specimens, and evaluated the reasons of the discordance. MATERIALS AND METHODS: We retrospectively reviewed 1,202 ESD specimens that were originally diagnosed as gastric IEN and early carcinoma at 12 institutions. RESULTS: The final consensus diagnosis of carcinoma were 756 cases, which were originally 692 carcinomas (91.5%), 43 high-grade dysplasias (5.7%), 20 low-grade dysplasias (2.6%), and 1 others (0.1%), respectively. High- and low-grade dysplasia were finally made in 63 and 342 cases, respectively. The diagnostic concordance with the consensus diagnosis was the highest for carcinoma (91.5%), followed by low-grade dysplasia (86.3%), others (63.4%) and high-grade dysplasia (50.8%). The general kappa value was 0.83, indicating excellent concordance. The kappa values of individual institutions ranged from 0.74 to 1 and correlated with the proportion of carcinoma cases. The cases revised to a final diagnosis of carcinoma exhibited both architectural abnormalities and cytologic atypia. The main differential points between low- and high-grade dysplasias were the glandular distribution and glandular shape. Additional features such as the glandular axis, surface maturation, nuclear stratification and nuclear polarity were also important. CONCLUSION: The overall concordance of the diagnosis of gastric IEN and early carcinoma in ESD specimens was excellent. It correlated with the proportion of carcinoma cases, demonstrating that the diagnostic criteria for carcinoma are more reproducible than those for dysplasia.

A Case of Venous Malformation in Temporomandibular Joint Causing Stenosis of External Auditory Canal / 대한이비인후과학회지

Both neoplasm and infections arising from the external auditory canal (EAC) can involve the temporomandibular joint (TMJ) but rarely the reverse. A benign TMJ mass that presents as an EAC mass is a rare otologic entity as only seven cases have been reported worldwide. The authors experienced a 72-year-old male patient presenting with EAC mass with fluctuation when opening the mouth, which turned out to be caused by venous malformation of the TMJ. Surgical excision of the mass via endaural approach was successful. We present this case with a review of the literature.

A Case of Venous Malformation in Temporomandibular Joint Causing Stenosis of External Auditory Canal / 대한이비인후과학회지

Both neoplasm and infections arising from the external auditory canal (EAC) can involve the temporomandibular joint (TMJ) but rarely the reverse. A benign TMJ mass that presents as an EAC mass is a rare otologic entity as only seven cases have been reported worldwide. The authors experienced a 72-year-old male patient presenting with EAC mass with fluctuation when opening the mouth, which turned out to be caused by venous malformation of the TMJ. Surgical excision of the mass via endaural approach was successful. We present this case with a review of the literature.

Collision Tumor Associated with Sarcomatoid Eccrine Porocarcinoma and Basal Cell Carcinoma

A ‘collision’ tumor refers to the existence of two different neoplasms within the same tumor. Sometimes, the term ‘biphasic tumor’ is also used. However, a ‘collision’ tumor is defined as the occurrence of two neoplasms within proximity of each other yet maintaining distinctly defined, separate boundaries. In contrast, a ‘biphasic’ tumor demonstrates two or more phenotypically distinct neoplastic cell populations merging within the same space. Here, we report a case of collision tumor associated with sarcomatoid eccrine porocarcinoma and basal cell carcinoma arising in a 57-year-old male patient.

Simultaneous Development of Three Different Neoplasms of Trichilemmoma, Desmoplastic Trichilemmoma and Basal Cell Carcinoma Arising from Nevus Sebaceus

Nevus sebaceus is a hamartoma of the sebaceous gland that occurs congenitally, from which various secondary tumors can arise with a prevalence of 5%–6%. Benign neoplasms commonly arise from nevus sebaceous, but they have a very low malignant potential. Two neoplasms may occasionally arise within the same lesion, but it is rare for three or more neoplasms to occur in a nevus sebaceus simultaneously. A 61-year-old male patient was admitted to our hospital for a 4 cm×2.5 cm growing tumor in a verrucous form arising within a periauricular nevus sebaceus in the post auricle of the left ear that had developed 30 years earlier. The nodule was diagnosed as 3 different types of tumors: trichilemmoma, desmoplastic trichilemmoma, and basal cell carcinoma. To our knowledge, this is the first report of the coexistence of three different tumors arising from nevus sebaceous. It contain malignant neoplasm also. Surgeons should be aware of the need for close monitoring and early complete surgical excision of sebaceous nevus in order to improve patient outcomes.

Oncologic safety of self-expanded metal stent insertion as a bridge to elective surgery in malignant colorectal obstruction

PURPOSE: Colorectal obstruction develops most frequently by carcinoma, and 7%–30% of these colorectal carcinomas are acute cases. The oncologic safety of self-expanding metal stent (SEMS) insertion as a bridge to surgery has not yet been established. Thus, we investigated the oncologic safety of SEMS insertion as a bridge to surgery in patients with obstructive colorectal cancer.METHODS: This retrospective had 56 patients enrolled requiring emergency management for obstructive colorectal cancer at stage II or III, who had undergone curative surgery between July 2008 and June 2011. These subjects were divided into two groups: patients who had undergone emergency surgery without SEMS insertion (non-stent group) and those who had undergone elective surgery after preoperative decompression with SEMS insertion (stent group). The two groups were compared for clinicopathologic characteristics, postoperative complications, and survival rate.RESULTS: Enterostomy was performed in 25 patients (100.0%) in the non-stent group and 1 patient (3.2%) in the stent group; laparoscopic surgery was carried out in 7 patients (28.0%) in the non-stent group and 19 patients (61.29%) in the stent group, each showing statistically significant differences. There was no statistically significant difference in postoperative complications and 5-year disease-free survival rate (72% vs. 74.19%, P=0.87, respectively).CONCLUSION: In treatment of malignant colorectal obstruction, elective operation after stent insertion had similar oncologic outcomes compared with emergency operation. Preoperative stent insertion not only lowers the incidence of enterostomy but also makes laparoscopic surgery possible, thereby enhancing patients' quality of life. Therefore, preoperative stent insertion is a useful method that may replace emergency surgery in treatment of malignant colorectal obstruction.

The Colonoscopist's Expertise Affects the Characteristics of Detected Polyps

BACKGROUND/AIMS: The influence of the endoscopist on the polyp detection rate (PDR) is underappreciated in clinical practice. Moreover, flat lesions or lesions of the proximal colon are more difficult to detect. Here, we evaluated the differences in the PDR and the characteristics of detected polyps according to the experience of the colonoscopist. METHODS: We collected data on 2,549 patients who underwent screening colonoscopy performed by three fellows. The PDR was calculated according to the percentage of patients who had at least one polyp (method A) and according to the percentage of detected lesions (method B). The primary outcome included the change in the PDR, and the secondary outcome included the change in the characteristics of the detected polyps with increasing experience of the colonoscopist. RESULTS: No proportional correlation was found between the PDR and increasing experience in colonoscopy with method A; however, with method B, the PDR increased after 400 colonoscopies (p=0.0209). With method B, the detection rates of small polyps (<5 mm) (p=0.0015) and polyps in proximal sites (p=0.0050) increased after 300 colonoscopies. CONCLUSIONS: Our study demonstrated that the quality of a colonoscopy, measured by using the PDR, may increase when performed by experienced fellows.

Two Cases of Lipedematous Scalp in Korean Patients / 대한피부과학회지

No abstract available.

A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types. It has a wide spectrum of clinical phenotypes, and renal failure is a serious complication. Fabry disease is confirmed either by measurement of α-galactosidase A activity or by genetic testing for GLA mutations. Renal biopsy findings on light microscopy, specifically enlarged podocytes with foamy cytoplasm, and osmiophilic inclusion bodies in the cytoplasm in all types of renal cells on electron microscopy, are characteristic of this disease. The predominant differential diagnosis is iatrogenic phospholipidosis in association with certain drugs that can cause cellular injuries indistinguishable from Fabry disease. Here, we report the case of a 10-year-old boy with microscopic hematuria who underwent a renal biopsy that showed morphological findings consistent with Fabry disease, although the patient had neither a GLA mutation nor a history of drug consumption. Six years later, spontaneous regression of this renal pathology was observed in a second renal biopsy examination.

A Case of Lymphangiectasia after Treatment for Breast Cancer / 대한피부과학회지

No abstract available.

Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

No abstract available.

ERCC1 as a Predictive Marker for FOLFOX Chemotherapy in an Adjuvant Setting

PURPOSE: The purpose of this study was to identify the excision repair cross-complementation group 1 (ERCC1) as a predictive marker for FOLFOX adjuvant chemotherapy in stages II and III colon cancer patients. METHODS: A total of 166 high risk stages II and III colon cancer patients were retrospectively enrolled in this study, and data were collected prospectively. They underwent a curative resection followed by FOLFOX4 adjuvant chemotherapy. We analyzed ERCC1 expression in the primary colon tumor by using immunohistochemical staining. The oncological outcomes included the 5-year disease-free survival (DFS) rate. The DFS was analyzed by using the Kaplan-Meier method with the log-rank test. A Cox proportional hazard model was used for the prognostic analysis. RESULTS: ERCC1-positive expression was statistically significant in the older patients (P = 0.032). In the multivariate analysis, the prognostic factors for DFS were female sex (P = 0.016), N stage (P = 0.009), and postoperative carcinoembryonic antigen level (P = 0.001), but ERCC1 expression was not a statistically significant prognostic factor for DFS in the univariate analysis (P = 0.397). The 5-year DFS rate was not significantly associated with the ERCC1 expression in all patients (P = 0.396) or with stage III disease (P = 0.582). CONCLUSION: We found that ERCC1 expression was not significantly correlated with the 5-year DFS as reflected by the oncologic outcomes in patients with high-risk stages II and III colon cancer treated with FOLFOX adjuvant chemotherapy.

Prognostic Significance of Defining L-Cell Type on the Biologic Behavior of Rectal Neuroendocrine Tumors in Relation with Pathological Parameters / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: In 2010, the World Health Organization categorized L-cell type neuroendocrine tumors (NETs) as tumors of uncertain malignancy, while all others were classified as malignant. However, the diagnostic necessity of L-cell immunophenotyping is unclear, as are tumor stage and grade that may guide diagnosis and management. To clarify the predictive markers of rectal neuroendocrine neoplasms (NENs), 5- and 10-year overall survival (OS) was analyzed by pathological parameters including L-cell phenotype. MATERIALS AND METHODS: A total of 2,385 rectal NENs were analyzed from our previous multicenter study and a subset of 170 rectal NENs was immunophenotyped. RESULTS: In univariate survival analysis, tumor grade (p 10, is useful in defining L-Cell type. In this study, an L-cell immunophenotype was found in 83.5% of all rectal NENs and most, but not all L-cell type tumors were NET G1, small (< 10 mm) and confined to the mucosa/submucosa. CONCLUSION: From these results, the biological behavior of rectal NENs does not appear to be determined by L-cell type alone but instead by a combination of pathological parameters.

A case of ampullary gangliocytic paraganglioma

Gangliocytic paragangliomas (GPs) are rare tumors of the duodenum, presenting as single sessile or pedunculated polypoid masses. Clinical manifestations of duodenal GPs can vary from an incidental finding at endoscopy to frequent upper gastrointestinal bleeding caused by mucosal ulceration and abdominal pain. GPs are considered benign, but the disease can recur and spread to regional lymph nodes. A 41-year-old female presented with abdominal pain. Upper gastrointestinal endoscopy revealed a subepithelial tumor of the ampulla of Vater in the second portion of the duodenum. The tumor was resected using the endoscopic mucosal resection technique. The tumor was diagnosed as benign GP of the duodenum using histological and immunohistochemical staining procedures.

Relationship between 15-hydroxyprostaglandin dehydrogenase and gastric adenocarcinoma

PURPOSE: Prostaglandin E2 (PGE2) is a contributory carcinogen in gastric adenocarcinoma. 15-Hydroxyprostaglandin dehydrogenase (15-PGDH) catabolizes PGE2 by oxidizing its 15(s)-hydroxy group. The aim of this study was to investigate the expression of 15-PGDH in gastric adenocarcinoma tissue and the relationship between 15-PGDH expression and clinicopathologic features of gastric adenocarcinoma. METHODS: Ninety-nine patients who underwent surgical resection for gastric adenocarcinoma between January 2007 and December 2007 were enrolled and evaluated retrospectively. RESULTS: In 62 patients (62.6%), 15-PGDH expression was lower in gastric adenocarcinoma tissue than in nonneoplastic tissue. Regarding the relationship between 15-PGDH expression and clinicopathological features, 15-PGDH expression was significantly lower in tissues with poor differentiation (P = 0.002), advanced T stage (P = 0.0319), a higher number of lymph node metastases (P = 0.045), lymphatic invasion (P = 0.031), and vascular invasion (P = 0.036). CONCLUSION: 15-PGDH expression was associated with a subset of clinicopathologic features such as differentiation grade, T stage, lymphatic invasion, and vascular invasion.

Comparison of the Efficacy and Tolerability between Same-day Picosulfate and Split-dose Polyethylene Glycol Bowel Preparation for Afternoon Colonoscopy: A Prospective, Randomized, Investigator-blinded Trial

BACKGROUND/AIMS: In the present study, we evaluated the efficacy and tolerability between same-day bowel preparation protocols using 2 sachets of Picosulfate and a 4 L split-dose polyethylene glycol (PEG) bowel preparation for afternoon colonoscopy. METHODS: The study had a single-center, prospective, randomized, and investigator-blinded, non-inferiority design. We evaluated bowel preparation quality according to the Ottawa scale, patient tolerability, compliance, incidence of adverse events, sleep quality, and polyp/adenoma detection rate. RESULTS: Among the 196 patients analyzed (mean age, 55.3 years; 50.3% men), 97 received the same-day regimen of 2 sachets of picosulfate (group A) and 99 received the 4 L split-dose PEG regimen (group B). The Ottawa score of the total colon was 4.05+/-1.56 in group A and 3.80+/-1.55 in group B (P=0.255). The proportion of patients having adequate bowel preparation in the same-day picosulfate group (61.5%) was slightly less than the 4 L PEG group (71.3%); however, the difference was not statistically significant (P=0.133). Tolerability of the group A regimen was superior to that of the group B regimen (P<0.000). The same-day picosulfate regimen was associated with fewer adverse events, such as abdominal bloating (P=0.037) and better sleep quality (P<0.000). CONCLUSIONS: The same-day picosulfate regimen and the 4 L split-dose PEG regimen had similar efficacy in bowel preparation for afternoon colonoscopy. However, the same-day picosulfate regimen was easier to administer, produced fewer adverse events, and enabled better sleep quality.

Congenital Melanocytic Nevus with Asymptomatic Neurocutaneous Melanosis / 대한피부과학회지

Congenital melanocytic nevi (CMN) are benign pigmented lesions that are defined as a tissue malformation of the neuroectoderm. Giant melanocytic nevi with multifocal involvement show significantly greater risk of developing malignant melanomas and neurocutaneous melanocytosis, particularly those in a posterior axial location. Neurocutaneous melanosis is a rare, congenital, non-inherited disorder characterized by the presence of large, multiple congenital melanocytic nevi with proliferation of melanocytes in the central nervous system. Asymptomatic neurocutaneous melanosis can be detectable only by MRI. The patients who have clinical manifestations have an extremely poor prognosis. We present a patient with giant congenital melanocytic nevi involving a major portion of the back with multiple satellite nevi scattered over the whole body associated with asymptomatic neurocutaneous melanosis. We emphasize the importance of imaging study for detection of early neurological symptoms or melanomas. To our knowledge, this is the first case of giant congenital melanocytic nevi associated with asymptomatic neurocutaneous melanosis in Korean dermatologic literatures.

A Case of Henoch-Schonlein Purpura Presenting with Cholestatic Hepatitis / 대한내과학회지

Hepatobiliary involvement is a rare manifestation of Henoch-Schonlein purpura (HSP). HSP cases related to hepatitis A, B or C virus have been reported but little is known about HSP cases complicated by cholestatic hepatitis without underlying hepatobiliary disease. Here, we report a case of Henoch-Schonlein purpura presenting with cholestatic hepatitis. The patient presented with upper abdominal pain and cholestasis that developed characteristic purpura. The patient was treated conservatively by therapeutic fasting and nutritional support, and liver function recovered 7 weeks after admission.