Cuspid gigantism or radicomegaly is a rare occurrence often associatedwith a hereditary, X-linked condition, called oculo-cardio-facio-dental (OFCD)syndrome. This syndrome is also characterized by atrial septal defects and/orventricular septal defects, congenital cataracts and unusual facial characteristics.Confirmation of this syndrome is often provided by dentists or orthodontistswhen they diagnose an extremely large ...

Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth ...

A 6-year-old boy, diagnosed with Crouzon syndrome, had moderate exorbitism, a concave profile, an anterior crossbite of -4.0 mm, and a skeletal Class III jaw-base relationship caused by midfacial hypoplasia. At age 8 years 9 months, a LeFort III osteotomy was performed, and distraction osteogenesis was immediately started with the ...

Supernumerary teeth are an infrequent developmental anomaly that can appear in any area of the dental arch and can affect any dental organ. Multiple supernumerary teeth, or hyperdontia, is rare in people with no other associated diseases or syndromes. Conditions commonly associated with hyperdontia include cleft lip and palate, trichorhinophalangeal ...

The goal of periodontal therapy has always been regeneration of the lost tissues. However, conventional periodontal therapy has not always been successful in achieving regeneration, especially when it is part of a syndrome. This case report involves a 13-year old male patient with the chief complaint of mobile teeth for ...

Gingival fibromatosis is characterized by fibrotic enlargement of the gingiva that can occur as inherited or sporadic form. Inherited form can be an isolated trait or as a component of a syndrome. This article reports a 35 year old male patient affected by gingival fibromatosis associated with hemiosseous hyperplasia of ...

Teeth erupting at birth are referred to as natal teeth. It is a common and benign finding in the neonatal period. However, they may be associated with genetic syndromes like Ellis Van Creveld syndrome and Hallermann-Streiff syndrome. We report here a case of natal teeth in an infant with congenital ...

Tooth agenesis is the most prevalent craniofacial congenital malformation in humans. While tooth agenesis may be associated with several syndromes, non-syndromic hypodontia refers to the congenital absence of a few teeth in the absence of any other deformity. Recent advances in molecular genetics have made it possible to identify the ...

To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome. Clinical and radiographic examination of a patient with Apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic ...

Peripheral giant cell granuloma (PGCG) is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at ...

A SPECT (single photon emission computed tomography using Tc-99m HMPAO) study of brain with segmental quantitative analysis was conducted to access the cerebral perfusion in cases of Downs syndrome (DS). Varying level of brain hypo-perfusion was documented, probably explaining the neurophysiologic basis of cognitive and neuropsychological deficits, which are not ...

INTRODUCTION: The development of diffuse large B cell lymphoma during the course of chronic lymphocytic leukemia is known as Richter's syndrome, considered as one of the most serious complications of this disease. It occurs mainly in lymphoid tissues and organs, for which extranodal involvement-especially in the gastrointestinal tract-is not common. ...

Gastric antral vascular ectasia (GAVE) is characterized by red patches or spots in either a diffuse or linear array in the antrum of the stomach. This syndrome is commonly referred to as watermelon stomach because of its typical endoscopic appearance. Patients with GAVE frequently have occult bleeding requiring continual transfusions. ...

Gastrointestinal stasis is currently a vaguely defined term for decreased gastrointestinal motility. The term gastric stasis syndrome was previously proposed, but falls short of an accurate description, as in many cases portions of the gastrointestinal tract other than the stomach are affected. The term rabbit gastrointestinal syndrome (RGIS) defines a ...

Cruveilhier-Baumgarten syndrome (CBS) is a rare complication of cirrhosis. We reported a case of CBS who came to hospital with progressive ascites, jaundice, fever and upper gastrointestinal bleeding. The cause of cirrhosis and hepatitis might be due to alcohol and possibly local Thai herb [Boesenbergia pundurata (Roxb.) Schitr or Krachaidum].

Blue rubber bleb naevus syndrome (BRBNS) is characterised by vascular malformations of the skin and gastrointestinal tract. We present the rare case of BRBNS in an African child. She presented with large-volume gastrointestinal bleeding and was managed by on-table colonoscopic identification and surgical excision, of all her enteric, vascular malformations.

INTRODUCTION: Several cases of morel poisoning associated with neurological symptoms have been reported. The objective of this study was to describe this new mushroom poisoning syndrome. MATERIAL AND METHODS: Retrospective study of morel poisonings collected in the French Poison Control Centers from 1976 to 2006. Cases were classified as neurological ...

Klippel-Trenaunay syndrome is a congenital vascular anomaly characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and (or) soft tissue. Gastrointestinal vascular malformations in Klippel-Trenaunay syndrome may present with gastrointestinal bleeding. The majority of patients with splenic hemangiomatosis and/or left inferior vena cava are asymptomatic. ...

INTRODUCTION: Watermelon stomach (WS) or gastric antral vascular ectasia (GAVE) is a rare cause of upper gastrointestinal bleeding described in a variety of autoimmune disorders. Association of watermelon stomach with Sj?gren's syndrome is extremely rare. CASE REPORT; We presented a 67-year old female with primary Sj?gren's syndrome (SS) who had ...

Protein-losing enteropathy (PLE) is frequently complicated in patients with gastrointestinal tract-involved Langerhans cell histiocytosis (LCH); however, LCH per se is not generally included in the list of diseases that cause PLE. We report here a case of infantile PLE that presented with continuous diarrhea at the onset of LCH. She ...

Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Onset of palmoplantar hyperkeratosis and periodontopathy is most commonly ...

Acute exposure to ionizing radiation can cause lethal damage to the gastrointestinal (GI) tract, a condition called the GI syndrome. Whether the target cells affected by radiation to cause the GI syndrome are derived from the epithelium or endothelium and whether the target cells die by apoptosis or other mechanisms ...

BACKGROUND: Mallory-Weiss tears occur rarely during pregnancy, labour and delivery, and the puerperium, despite the increased frequency of retching and vomiting. CASE: We describe a Mallory-Weiss syndrome diagnosed during the immediate postpartum period in a 34-year-old primigravida. The syndrome initially manifested as lower gastrointestinal bleeding and melena. CONCLUSION: If unrecognized, ...

Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in various ethnic groups, HPS is most common in ...

Inherited polyposis syndromes are relatively rare disorders in pediatric gastroenterology practice, even in busy academic settings. It is important, however, for pediatric gastroenterologists to be aware of the serious health risks for children and their families affected by these disorders. The diagnosis of a polyp syndrome is often made in ...

Klippel-Trenaunay syndrome is a congenital vascular anomaly characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Gastrointestinal and genitourinary vascular malformations in Klippel- Trenaunay syndrome may present with lower gastrointestinal bleeding and hematuria. The majority of patients with splenic hemangiomatosis are asymptomatic. ...

The presented case is the another one which ilustates the coexistence of cecum malignancy and genetics-conditional multisystemic arteriovenous malformations. A 64-year-old male with the mucosal form of Rendu-Osler-Weber syndrome presented a history of two different causes of lower gastrointestinal bleeding occurred clinically and confirmed by colonoscopy. The more dangerous one ...

Gastric antral vascular ectasia (GAVE) syndrome, also known as watermelon stomach is a significant cause of acute or chronic gastrointestinal blood loss in the elderly. is characterized endoscopically by "watermelon stripes." Without cirrhosis, patients are 71% female, average age 73, presenting with occult blood loss leading to transfusion-dependent chronic iron-deficiency ...

Rectal mucosal prolapse syndrome, histologically characterized by fibromuscular obliteration in the lamina propria, hyperplastic glands and thickened muscularis mucosa, causes rectal bleeding. Sjögren's syndrome is an autoimmune exocrinopathy that chiefly destroys the salivary and lacrimal glands by lympho-plasmacytic infiltration. Although various gastrointestinal manifestations have been reported in patients with Sjögren's ...

The manifestations of gastroesophageal reflux disease (GERD) have been classified into either esophageal or extraesophageal syndromes. Cough, reflux laryngitis, and asthma have been classified as extraesophageal syndromes, whereas reflux chest pain has been classified as a symptomatic syndrome of GERD. In extraesophageal syndromes, patients usually do not display the classic ...

Antithrombotic therapy coupled with early use of cardiac catheterization and revascularization have decreased morbidity and mortality rates in patients who have acute ischemic heart disease but who carry a risk for bleeding. Bleeding complications in patients with acute coronary syndromes are associated with worse clinical outcomes, including recurrent ischemic events ...

A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy, hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies ...

Blue rubber bleb nevus syndrome, first discovered in 1860 by Gascoyen, is a rare syndrome characterized by multiple venous malformations (hemangiomas) of the skin and in the gastrointestinal tract. These hemangiomas may be found in the skin, GI tract, central nervous system, thyroid, parotid, eyes, oral cavity, musculoskeletal system, lungs, ...

Pigmented spots in the skin and mucosa (lentigines) can be found in various diseases called familial lentiginosis syndromes; Peutz-Jeghers syndrome (PJS) is one of them. It is characterized by the association of mucocutaneous melanin pigmentation and hamartomatous gastrointestinal polyps. Patients with PJS are at increased risk of intussusception and cancer ...

Duodenal diverticula generally occur in 2.5% of upper gastrointestinal examinations and are usually asymptomatic, but can cause hemorrhage on rare occasions. The frequency of gastrointestinal hemorrhage in patients with MDS or hematologic neoplasm caused by duodenal diverticulum is not known. Therefore, the correct diagnosis of intestinal hemorrhage is important, as ...

Satoyoshi syndrome is a rare postnatal disorder with muscle spasms, alopecia, and diarrhea of unknown etiology. Nutritional deficiency seems to influence lifespan. We present a patient with this syndrome having a unique "mesh-like" mucosal change radiographically and white granules endoscopically in the gastrointestinal tract. A common antibody against brain, stomach, ...

Pseudomyxoma peritonei (PMP) syndrome is an uncommon, slowly progressive condition that usually arises from perforation of an adenoma in the appendix. PMP syndrome is characterized by mucin accumulation in the peritoneal cavity. Mucinous implants are found on all peritoneal surfaces and the omentum. PMP syndrome rarely metastasizes outside the abdominal ...

OBJECTIVE: Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known as MYH9-related hereditary macrothrombocytopenia, and include the May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and Epstein syndrome. Despite the presence of thrombocytopenia, these patients often have only mild or non-bleeding phenotypes. A ...

PURPOSE: To evaluate the change in upper eyelid position after horizontal surgical tightening in patients with floppy eyelid syndrome. DESIGN: Prospective, noncomparative, interventional case series. PARTICIPANTS: Eighteen patients with a clinical diagnosis of floppy eyelid syndrome. METHODS: Horizontal surgical tightening of the upper eyelid was performed by full-thickness wedge resection ...

Proteus syndrome was originally described by Cohen and Hayden in 1979. The disorder was named Proteus syndrome by Wiedmann and colleagues in 1983 after Proteus, the giant Greek god of the sea. Proteus syndrome is a rare, sporadic, congenital polymorphic condition. Approximately 200 cases have been reported in the literature, ...

Aortic valve stenosis can be complicated by recurrent gastrointestinal bleeding, particularly that due to angiodysplasia, also called Heyde syndrome. Recently, acquired type 2A von Willebrand disease, which is characterized by the loss of the large multimer of von Willebrand factor by the shear stress of aortic valve stenosis, was reported ...

Cowden syndrome is a non-adenomatous gastrointestinal polyposis syndrome with inactivation of PTEN, a dual-phosphatase tumor suppressor gene. Patients with loss of wildtype PTEN expression from one allele carry an increased risk of malignant breast, thyroid and brain tumors. However, the risk of malignant transformation in gastrointestinal polyps is still unclear. ...

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review ...

Gastrointestinal manifestations of dengue fever are mainly in the form of bleeding or liver function abnormalities. Dengue fever presenting as acute colitis-like picture is not reported to date. We report a 50-year-old man with dengue fever presenting with lower gastrointestinal bleeding and colonoscopic features of acute inflammatory colitis.

Campylobacter species are well-recognized common causes of gastrointestinal infections. While Campylobacter jejuni is probably the most common Campylobacter isolated in humans, Campylobacter fetus is rather infrequent and mostly related with bacteraemia. Even on such occasions, it seems that immunocompetent individuals are spared. We report a case of C. fetus bacteraemia ...

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is characterised by a rare multisystem disorder of unknown pathogenesis. Although its pathophysiology is not well understood, overexpression of proinflammatory cytokines has been implicated. Gastrointestinal system disorders have not been reported among the components of the syndrome. A case is ...

Cowden's syndrome (CS) is a rare autosomal dominant condition featuring multiple hamartomas, often with mucocutaneous lesions, goitre, breast cancer, gastrointestinal polyps or even Lhermitte-Duclos disease (LDD). In this article we report the case of a 34-year-old man who was diagnosed with LDD. Subsequent examinations also revealed manifestations of CS, i.e. ...

Blue rubber bleb nevus syndrome is a rare disorder characterised by cutaneous and gastrointestinal vascular malformations. A 31-year-old man came under our observation with obscure gastrointestinal bleeding. Hemangiomas on his back and the multiple bluish vascular lesions in the distal ileum revealed by capsule endoscopy led to the diagnosis of ...

Cowden's syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable phenotype, principally characterized by the formation of hamartomas in various organs, including skin, thyroid, breast, brain, and gastrointestinal tract and by the increased risk for the development of malignancy. The present report details the features of a ...

Gastrointestinal angiodysplasia in association with Bernard-Soulier syndrome has been previously described in adults. The authors report on a 14year-old boy presenting with massive upper gastrointestinal bleeding due to a large gastric angiodysplasia, in whom medical history and laboratory investigations were consistent with Bernard-Soulier syndrome. The vascular lesion was so widespread ...