Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection being the face, trunk, and extensor surfaces of the extremities. Histologically, the lesions exhibit ill-defined dermal tumors with interlacing fascicles of spindle cells. Some genodermatoses are characterized by the development of visceral tumors and cutaneous leiomyomatosis such as Reed’s syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC). A 55-year-old male presented with reddish-brown papules and nodules on the face and upper back, accompanied by sharp episodic pain on the face. He had undergone nephrectomy for renal cancer 9 years ago, and his younger brother had similar cutaneous manifestation. Histopathologic findings were consistent with pilar leiomyoma, showing bundles of smooth muscle tumors in the dermis. Based on the clinical information including clinical features, past medical history, and family history, HLRCC was highly suspected.To confirm the diagnosis, whole exome sequencing was performed using peripheral blood, which revealed a novel point mutation (c.739G>A, p.Glu247Lys) in the fumarate hydratase (FH) gene. We describe a confirmed case of HLRCC, which is a genetic disorder with a potential to cause visceral cancers, which dermatologists might overlook as a benign condition.

Background: Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circu‑ lar shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) meas‑ ured MA in degenerative mitral valve disease (DMVD). Methods: Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D ­TEEsa ) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D ­TEEsa . MA areas were compared using linear regression and Bland-Altman analysis. Results: The median MA area measured at 3D ­TEEsa was 1,386 (1,293–1,673) ­mm2 . With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distribu‑tions of inter-method differences were wide for all 2D TTE methods (265–289 ­mm2 ) when compared to 3D ­TEEsa , indicating imprecision. Conclusions When compared with 3D ­TEEsa modeling of the MA as the reference, the assumption of a circular shapeusing A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moder‑ ate to severe regurgitation.

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.
Amyloid ; Amyloidosis ; Biopsy ; Bone Marrow ; Colon ; Constipation ; Diarrhea ; Gastrointestinal Hemorrhage ; Gastroparesis ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction ; Middle Aged ; Multiple Myeloma ; Steatorrhea ; Stomach ; Weight Loss

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.
Amyloid ; Amyloidosis ; Biopsy ; Bone Marrow ; Colon ; Constipation ; Diarrhea ; Gastrointestinal Hemorrhage ; Gastroparesis ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction ; Middle Aged ; Multiple Myeloma ; Steatorrhea ; Stomach ; Weight Loss

Abdominal tuberculosis is not a rare disease, but obstructive jaundice caused by tuberculosis (tuberculous lymphadenitis, tuberculous enlargement of the head of pancreas, and/or tuberculous stricture of the biliary tree) is rare. We recently experienced a case of obstructive jaundice as a result of paradoxical reaction of periportal tuberculous lymphadenopathy that was treated successfully with corticosteroid and biliary drainage. No similar cases have been reported previously.
Constriction, Pathologic ; Drainage ; Head ; Jaundice, Obstructive ; Lymphatic Diseases ; Pancreas ; Rare Diseases ; Tuberculosis ; Tuberculosis, Lymph Node

BACKGROUND/AIMS: Clostridium difficile is an important cause of diarrhea in hospitalized patients. C. difficile-associated diarrhea (CDAD) is usually diagnosed following a stool test for C. difficile cytotoxin or stool culture for the presence of toxigenic C. difficile. However, the reported sensitivities of these tests are variable. Sigmoidoscopy may be an effective diagnostic method in patients with a false-negative stool test for cytotoxin. This study examined the role of flexible sigmoidoscopy in the diagnosis of CDAD. METHODS: Among the patients who had diarrhea and were examined with sigmoidoscopy in Eulji University Hospital between January 2005 and July 2008, 102 patients suspected of having antibiotic-associated diarrhea (AAD) based on their clinical symptoms were enrolled. Of the 102 patients, 74 were diagnosed with CDAD based on C. difficile cytotoxin or sigmoidoscopic findings of pseudomembranous colitis. The medical records of these 74 patients were reviewed retrospectively. RESULTS: Of the 74 patients, sigmoidoscopic findings revealed a pseudomembrane in 63 patients (85.1%) and colitis in nine (12.2%), while two patients (2.7%) appeared normal. Of the 63 patients with pseudomembranous colitis at sigmoidoscopy, the stool C. difficile cytotoxin assay was negative in 27 (42.9%). CONCLUSIONS: Flexible sigmoidoscopy was highly sensitive in pseudomembranous colitis and is useful in diagnosing patients with a delayed or negative stool test for C. difficile cytotoxin. Therefore, we recommend flexible sigmoidoscopy in patients suspected of having C. difficile-associated diarrhea for the diagnosis of CDAD.
Clostridium ; Clostridium difficile ; Colitis ; Diarrhea ; Enterocolitis, Pseudomembranous ; Humans ; Medical Records ; Sigmoidoscopy

BACKGROUND: The isoenzyme of glutamate decarboxylase (GAD), islet associated antigen (IA2, IAA) and insulin are known to be the major target antigens of pancreatic islet cell autoantibody as a predictor of type 1 diabetes mellitus (DM). Generally radioimmunoassay (RIA) methods are used for these autoantibodies but inconvenience of dealing with radioisotope have made enzyme-linked immunosorbent assay (ELISA) developed for clinical utilization. But, lack of evaluation or comparison studies of these two methods for autoantibodies make laboratories hesitate to adopt. METHODS: We measured the glutamate decarboxylase autoantibody (GADA), insulin autoantibody (IAA) and pancreatic islet cell autoantibodies (ICA) by a commercial ELISA method in 34 patients with type 1 DM, and 31 patients with type 2 DM, and 32 healthy control group. Conventional RIA was performed concurrently and compared for GADA and IAA. ICA was measured by conventional indirect immunofluorescent assay (IFA). The obtained results were compared and also C-peptide level was measured as a marker for residual function of islet cell of pancreas. RESULTS: Each autoantibody measured by ELISA in type 1 DM showed positive rate of 11.8% and for ICA, 26.5% for GADA, and 35.3% for IAA. The positive rate of the same group of type 1 DM when using RIA were 76.5% for GADA far exceeding that of ELISA method, and 29.4% for IAA. The percentage of positivity in combination of the ELISA methods for ICA and GAD yielded 29.4%, ICA plus IAA showed 38.2%, and GAD plus IAA was 52.9%, respectively. IAA positive rates in two groups divided by the age of 10 showed no significant difference. The presence of the autoantibodies did not influenced the C-peptide level. CONCLUSIONS: Further large scale studies including prediabetic state and autoimmune diabetes are required to establish the accurate diagnostic method of islet cell autoantibodies. But, presently ELISA method was considered that more improvement was needed for reliable and comparable results especially GADA.
Autoantibodies* ; C-Peptide ; Diabetes Mellitus* ; Diabetes Mellitus, Type 1 ; Enzyme-Linked Immunosorbent Assay* ; Glutamate Decarboxylase ; Humans ; Insulin ; Islets of Langerhans* ; Pancreas ; Prediabetic State ; Radioimmunoassay

In Yugoslavia, homorrhagic fever with renal syndrome (HFRS) is one of the important national health problem, but no vaccine has been used to prevent HFRS. Since first HFRS case in 1952, sporadic cases of HFRS occurred every year and over 4,000 registered cases with 1~16% mortality so far. We performed a prospective, randomized double-blind placebo-controlled trial to evaluate the effectiveness of Hantavax(TM) against HFRS in 3,900 healthy adults living in the endemic areas of Yugoslavia. 1,900 people were given 0.5 ml of Hantavax subcutaneously twice at one month interval and a booster shot at one year after. For controls other 2,000 healthy people were given 0.5 ml of physiolosical saline as a placebo. We investigated HFRS cases in both the vaccinated and nonvaccinated groups by monitoring the program for patient registration in the areas from 1996 to 1998, and the effect of vaccine was analyzed epidemiologically No confirmed case of HFRS was observed among 1,900 Hantavax vaccinees, while 20 confirmed cases were observed among 2,000 nonvaccinated control group. There were no remarkable side effects among the vaccinees either locally or in general after inoculation of the vaccine. The Hantavax vaccine showed statistically significant protective efficacy against HFRS among Yugoslavian people.
Adult ; Fever ; Hantaan virus* ; Hantavirus ; Hemorrhagic Fever with Renal Syndrome* ; Humans ; Mortality ; Prospective Studies ; Yugoslavia*

In Yugoslavia, homorrhagic fever with renal syndrome (HFRS) is one of the important national health problem, but no vaccine has been used to prevent HFRS. Since first HFRS case in 1952, sporadic cases of HFRS occurred every year and over 4,000 registered cases with 1~16% mortality so far. We performed a prospective, randomized double-blind placebo-controlled trial to evaluate the effectiveness of Hantavax(TM) against HFRS in 3,900 healthy adults living in the endemic areas of Yugoslavia. 1,900 people were given 0.5 ml of Hantavax subcutaneously twice at one month interval and a booster shot at one year after. For controls other 2,000 healthy people were given 0.5 ml of physiolosical saline as a placebo. We investigated HFRS cases in both the vaccinated and nonvaccinated groups by monitoring the program for patient registration in the areas from 1996 to 1998, and the effect of vaccine was analyzed epidemiologically No confirmed case of HFRS was observed among 1,900 Hantavax vaccinees, while 20 confirmed cases were observed among 2,000 nonvaccinated control group. There were no remarkable side effects among the vaccinees either locally or in general after inoculation of the vaccine. The Hantavax vaccine showed statistically significant protective efficacy against HFRS among Yugoslavian people.
Adult ; Fever ; Hantaan virus* ; Hantavirus ; Hemorrhagic Fever with Renal Syndrome* ; Humans ; Mortality ; Prospective Studies ; Yugoslavia*

Most malignant tumors originating from the biliary tract are adenocarcinomas, and adenosqamous carcinoma of Klatskin's tumor is a very rare finding. An 83-yr-old man was admitted to our hospital because of jaundice. The abdominal computed tomography and magnetic resonance cholangiopancreatography revealed wall thickening and luminal stenosis of both the intrahepatic duct confluent portion and the common hepatic duct. These findings were compatible with Klatskin's tumor, Bismuth type III. Considering the patient's old age, palliative combined modality therapy was performed. After percutaneous transhepatic biliary drainage, biopsy was performed via percutaneous transhepatic cholangioscopy. The histopathologic findings showed adenosquamous carcinoma. External radiotherapy and intraluminal brachytherapy through the endobiliary Y-type stent were then done. Nine months after the radiotherapy, the laboratory findings and the abdominal computed tomography revealed biliary obstruction and progressive hepatic metastasis. The combined modality therapy of external radiotherapy, intraluminal brachytherapy and stenting assisted him to live a normal life until he finally experienced biliary obstruction.
Aged, 80 and over ; Bile Duct Neoplasms/*diagnosis/therapy ; *Bile Ducts, Extrahepatic ; Carcinoma, Adenosquamous/*diagnosis/therapy ; Cholangiography ; Combined Modality Therapy ; Humans ; Jaundice/etiology ; Male ; *Palliative Care ; Stents ; Tomography, X-Ray Computed