An 8-year-old girl who had experienced intermittent cough and fever over a 3 year period, was admitted after experiencing a recurrence for one month. One year ago the patient experienced a recurrent oral mucosal ulcer. Physical examination showed vitiligo in the skin of the upper right back. Routine blood tests and immune function tests performed in other hospitals had shown normal results. Multiple lung CT scans showed pulmonary infection. The patient had recurrent fever and cough and persistent presence of some lesions after anti-infective therapy. The antitubercular therapy was ineffective. Routine blood tests after admission showed agranulocytosis. Gene detection was performed and she was diagnosed with dyskeratosis congenita caused by homozygous mutation in RTEL1. Patients with dyskeratosis congenita with RTEL1 gene mutation tend to develop pulmonary complications. Since RTEL1 gene sequence is highly variable with many mutation sites and patterns and can be inherited via autosomal dominant or recessive inheritance, this disease often has various clinical manifestations, which may lead to missed diagnosis or misdiagnosis. For children with unexplained recurrent pulmonary infection, examinations of the oral cavity, skin, and nails and toes should be taken and routine blood tests should be performed to exclude dyskeratosis congenita. There are no specific therapies for dyskeratosis congenita at present, and when bone marrow failure and pulmonary failure occur, hematopoietic stem cell transplantation and lung transplantation are the only therapies. Androgen and its derivatives are effective in some patients. Drugs targeting the telomere may be promising for patients with dyskeratosis congenita.
Child ; Dyskeratosis Congenita ; complications ; therapy ; Female ; Humans ; Mouth Diseases ; etiology ; Mouth Mucosa ; pathology ; Recurrence ; Respiratory Tract Infections ; etiology ; Telomere ; drug effects ; Ulcer ; etiology

BACKGROUND/AIMS: Endoscopic hemoclip application is an effective and safe method of endoscopic hemostasis. We conducted a multicenter retrospective study on hemoclip and hemoclip combination therapy based on prospective cohort database in terms of hemostatic efficacy not in clinical trial but in real clinical practice. METHODS: Data on endoscopic hemostasis for non-variceal upper gastrointestinal bleeding (NVUGIB) were prospectively collected from February 2011 to December 2013. Among 1,584 patients with NVUGIB, 186 patients treated with hemoclip were enrolled in this study. Subjects were divided into three groups: Group 1 (n=62), hemoclipping only; group 2 (n=88), hemoclipping plus epinephrine injection; and group 3 (n=36), hemocliping and epinephrine injection plus other endoscopic hemostatic modalities. Primary outcomes included rebleeding, other therapeutic management, hospitalization period, fasting period and mortality. Secondary outcomes were bleeding associated mortality and overall mortality. RESULTS: Active bleeding and peptic ulcer bleeding were more common in group 3 than in group 1 and in group 2 (p<0.001). However, primary outcomes (rebleeding, other management, morbidity, hospitalization period, fasting period and mortality) and secondary outcomes (bleeding associated mortality and total mortality) were not different among groups. CONCLUSIONS: Combination therapy of epinephrine injection and other modalities with hemoclips did not show advantage over hemoclipping alone in this prospective cohort study. However, there is a tendency to perform combination therapy in active bleeding which resulted in equivalent hemostatic success rate, and this reflects the role of combination therapy in clinical practice.
Adult ; Aged ; Angiography ; Cohort Studies ; Combined Modality Therapy ; Databases, Factual ; Epinephrine/therapeutic use ; Female ; Gastrointestinal Hemorrhage/etiology/*therapy ; *Hemostasis, Endoscopic ; Humans ; Male ; Middle Aged ; Prospective Studies ; Proton Pump Inhibitors/therapeutic use ; Retrospective Studies ; Stomach Ulcer/complications/drug therapy/pathology ; Surgical Instruments ; Treatment Outcome

Helicobacter pylori can cause variety of upper gastrointestinal disorders such as peptic ulcer, mucosa associated lymphoid tissue (MALT)-lymphoma, and gastric cancer. The prevalence of H. pylori infection has significantly decreased in Korea since 1998 owing to active eradication of H. pylori. Along with its decrease, the prevalence of peptic ulcer has also decreased. However, the mean age of gastric ulcer increased and this is considered to be due to increase in NSAID prescription. Gastric cancer is one of the leading causes of cancer deaths in Korea and Japan, and IARC/WHO has classified H. pylori as class one carcinogen of gastric cancer. Despite the decreasing prevalence of H. pylori infection, the total number of gastric cancer in Korea has continuously increased from 2006 to 2011. Nevertheless, the 5 year survival rate of gastric cancer patients significantly increased from 42.8% in 1993 to 67% in 2010. This increase in survival rate seems to be mainly due to early detection of gastric cancer and endoscopic mucosal dissection treatment. Based on these findings, the prevalence of peptic ulcer is expected to decrease even more with H. pylori eradication therapy and NSAID will become the main cause of peptic ulcer. Although the prevalence of gastric cancer has not changed along with decreased the prevalence of H. pylori, gastric cancer is expected to decrease in the long run with the help of eradication therapy and endoscopic treatment of precancerous lesions.
Anti-Bacterial Agents/therapeutic use ; Anti-Inflammatory Agents, Non-Steroidal/adverse effects ; Gastrointestinal Diseases/complications/*epidemiology ; Helicobacter Infections/complications/drug therapy/epidemiology ; Humans ; Lymphoma, B-Cell, Marginal Zone/epidemiology ; Peptic Ulcer/epidemiology/etiology ; Prevalence ; Stomach Neoplasms/etiology/mortality/pathology

Administration, Oral ; Adolescent ; Female ; Histiocytosis, Langerhans-Cell ; complications ; drug therapy ; pathology ; Humans ; Lymph Nodes ; pathology ; Prednisone ; administration & dosage ; therapeutic use ; Retrospective Studies ; Skin Ulcer ; drug therapy ; etiology ; pathology ; Thalidomide ; administration & dosage ; therapeutic use ; Treatment Outcome

Acute esophageal necrosis (AEN) is a very rare disorder typically presenting as a diffuse black esophageal mucosa on upper endoscopy. For this reason, AEN is often considered to be synonymous with 'black esophagus'. The pathogenesis of entity is still unknown. We report a case of AEN with duodenal ulcer causing partial gastric outlet obstruction. A 53-year-old man presented with hematemesis after repeated vomiting. The upper gastrointestinal endoscopy revealed circumferential black coloration on middle 315 to lower esophageal mucosa that stopped abruptly at the gastroesophageal junction. Pyloric ring deformity and active duodenal ulceration with extensive edema was observed. After conservative management with NPO and intravenous proton pump inhibitor, he showed clinical and endoscopic improvement. He resumed an oral diet on day 7 and was discharged. In our case the main pathogenesis of disease could be accounted for massive esophageal reflux due to transient gastric outlet obstruction by duodenal ulcer and following local ischemic injury.
Acute Disease ; Duodenal Ulcer/drug therapy/etiology ; Endoscopy, Gastrointestinal ; Esophageal Diseases/complications/*diagnosis/drug therapy ; Esophagus/*pathology ; Gastric Outlet Obstruction/*complications/pathology ; Humans ; Ischemia/pathology ; Male ; Middle Aged ; Necrosis ; Proton Pump Inhibitors/therapeutic use ; Tomography, X-Ray Computed

Pyoderma gangrenosum (PG) is a rare, noninfectious neutrophilic dermatosis. Clinically, it begins with sterile pustules that rapidly progress into painful ulcers of variable depth and size with undermined violaceous borders. The diagnosis of PG is based on the history of an underlying disease, a typical clinical presentation, histopathology, and exclusion of other diseases. The peak incidence occurs between the ages of 20 to 50 years with women being more often affected than men. There have been very few reports of pyoderma gangrenosum with oral mucosal involvement. Oral lesions in previously reported cases have included ulcers of varying sizes from a few mm to several cm and have been reported to have been found on the tongue, soft and hard palate, buccal mucosa, and gingiva. Some of these oral lesions have been associated with ulcerative colitis, inflammatory bowel disease, and polycythemia rubra vera. A few cases were reported with biopsy findings, the histological picture being nonspecific, showing ulceration, and necrosis with inflammatory cell infiltrate. A peculiar case of pyoderma gangrenosum with an oral lesion is presented here, and the differential diagnosis is discussed.
Adult ; Anti-Infective Agents ; therapeutic use ; Chlorhexidine ; therapeutic use ; Dapsone ; therapeutic use ; Drug Therapy, Combination ; Female ; Glucocorticoids ; therapeutic use ; Humans ; Metronidazole ; therapeutic use ; Oral Ulcer ; drug therapy ; etiology ; pathology ; Prednisolone ; therapeutic use ; Pyoderma Gangrenosum ; complications ; Tooth Mobility ; etiology

Severe congenital neutropenia is a rare hematological disease characterized by a selective decrease in circulating neutrophils, maturation arrest of granulocytic precursors at the promyelocyte stage, and recurrence of infections. A 2-month-old male infant (patient A) and a 14-month-old female child (patient B) were referred to our hospital due to severe neutropenia. Sequencing analysis of ELA2 and HAX1 genes was performed. Two single nucleotide polymorphisms of HAX1 gene were found. They were 5,104T-->G point mutation of exon 1 and 5,474A-->G point mutation of intron 1 in HAX1 gene. The mutation of ELA2 gene was not found. The patient A showed a good response to granulocyte colony-stimulating factor (G-CSF) treatment and the absolute neutrophil count recovered to 1,195/microliter. But the patient B showed a partial response to G-CSF treatment and experienced several episodes of herpetic gingivostomatitis, oral ulcer, acute pharyngotonsillitis and otitis media during follow-up.
Adaptor Proteins, Signal Transducing/genetics ; Bone Marrow/pathology ; Female ; Granulocyte Colony Stimulating Factor, Recombinant/adverse effects/therapeutic use ; Humans ; Infant ; Male ; Neutropenia/congenital/drug therapy/*genetics ; Neutrophils/cytology/pathology ; Oral Ulcer/etiology ; Otitis Media/etiology ; Polymorphism, Single Nucleotide ; Serine Endopeptidases/genetics ; Stomatitis, Herpetic/etiology

Endoscopic mucosal resection (EMR) results in the formation of iatrogenic gastric ulcers and the optimal treatments for such ulcers are still unclear. We aimed to evaluate the efficacy of rebamipide in the management of EMR-induced ulcers by comparing it with an H2 receptor antagonist. After EMR, patients were randomly assigned into either rebamipide or famotidine groups. All patients received a one-week lansoprazole 30 mg q.d. therapy followed by three-week famotidine (20 mg b.i.d.) or rebamipide (100 mg t.i.d.) therapy. Four weeks after the treatments, ulcer sizes, stages, bleeding rates, and ulcer-related symptoms were compared using endoscopy and a questionnaire. A total of 63 patients were enrolled in this study. Finally, 51 patients were analyzed, 26 in rebamipide and 25 in famotidine group. Baseline characteristics were not significantly different between the two groups. Four weeks after EMR, the two groups were comparable in terms of ulcer reduction ratio (P=0.297), and ulcer stage (P=1.000). Moreover, no difference was observed with regard to ulcer-related symptoms, drug compliance, adverse drug event rates, and bleeding rates. Our data suggest that rebamipide is not inferior to famotidine in healing iatrogenic gastric ulcers, and could be a therapeutic option in the treatment of such ulcers.
Adult ; Aged ; Aged, 80 and over ; Alanine/*analogs & derivatives/therapeutic use ; Anti-Ulcer Agents/*therapeutic use ; Endoscopy, Gastrointestinal/*adverse effects ; Famotidine/*therapeutic use ; Histamine H2 Antagonists/*therapeutic use ; Humans ; Iatrogenic Disease ; Male ; Middle Aged ; Pilot Projects ; Prospective Studies ; Quinolones/*therapeutic use ; Receptors, Histamine H2/metabolism ; Stomach Ulcer/*drug therapy/*etiology/pathology ; Wound Healing

Administration, Topical ; Humans ; Immunosuppressive Agents ; administration & dosage ; adverse effects ; therapeutic use ; Lichen Planus, Oral ; complications ; drug therapy ; pathology ; Oral Ulcer ; drug therapy ; etiology ; Tacrolimus ; administration & dosage ; adverse effects ; therapeutic use ; Treatment Outcome

Endoscopic mucosal resection (EMR) is widely accepted as a standard treatment for early gastric cancer or gastric adenoma. However, EMR inevitably results in the formation of large iatrogenic ulcer at the resected area. Although the characteristics of EMR-induced ulceration are not fully understood, this type of ulcer is thought to heal faster and to recur less often than non-iatrogenic gastric ulcer. Current available evidences have suggested that EMR-induced ulcers heal within 2-3 months. Herein, we report two cases of non-healing persistent gastric ulcers after EMR. One is a case of gastric carcinoma which developed at the same site of previous EMR site for the low grade dysplasia. The other is a case in which persistent EMR-induced ulcer was healed in the long run after Helicobacter pylori eradication therapy.
Aged ; Endoscopy, Gastrointestinal ; Gastric Mucosa/pathology/*surgery ; Helicobacter Infections/complications/drug therapy ; Helicobacter pylori ; Humans ; Iatrogenic Disease ; Male ; Middle Aged ; Stomach Neoplasms/complications/diagnosis/*surgery ; Stomach Ulcer/diagnosis/*etiology/pathology