Pseudoxanthoma elasticum (PXE) is a rare disorder of elastin which primarily involves the skin, cardiovascular system, and eyes, but also manifests in the central nervous system, skeleton, and gastrointestinal tract. Rigall first described the cutaneous lesions of PXE in 1881 and thought the disorder was akin to the xanthomatoses. In 1896, Darier2 showed the typical histological changes in elas...

intussusception is common cause of bowel obstruction in the paediatric age group compared to the elderly population. many times, the diagnosis may be difficult because of asymptomatic nature of this bowel disorder. we hereby describe the case of a 75-year-old male who presented with lethargy, weakness, loss of movement in the joints and was found to be anemic. the haemoglobin level was low so h...

kindler syndrome is a rare hereditary disorder that predominantly involves the skin and mucous membrane. acral skin blistering, progressive photosensivity, skin atrophy and poikiloderma that begin from infancy and childhood are considered to be characteristic manifestations. urethral, anal, esophageal, mouth and laryngeal mucosa may be involved in this syndrome, thus periodontitis and gingival ...

BACKGROUND/AIMS Many patients with functional gastrointestinal disorders (FGIDs) rank sensations of bloating and distension among their most debilitating symptoms. Previous studies that have examined intestinal gas volume (IGV) in patients with FGIDs have employed a variety of invasive and imaging techniques. These studies are limited by small numbers and have shown conflicting results. The aim...

BACKGROUND AND OBJECTIVES Anti-hypertensive treatment with the angiotensin II receptor antagonist olmesartan is a rare cause of severe Sprue-like enteropathy. To substantiate the hypothesis that olmesartan interferes with gut immune homeostasis, clinical, histopathological and immune features were compared in olmesartan-induced-enteropathy (OIE) and in autoimmune enteropathy (AIE). METHODS Me...

Autism spectrum disorder (ASD), a neurodevelopmental disorder with a prevalence of 1 in 68 children, commonly presents with comorbid conditions which include sleep disorders. Sleep disorders reported in ASD include, among others, increased bedtime resistance, insomnia, parasomnia, sleep disordered breathing, morning rise problems, and daytime sleepiness. Polysomnography studies show that childr...

Objectives. SSc is a clinically heterogeneous and generalized disease, characterized by thickness of the connective tissue of the skin and internal organs, such as the digestive tract, impairing gastrointestinal (GI) motility. Our aim is to evaluate retrospectively abnormalities of oesophageal motility, gastric emptying, oro-cecal transit time (OCTT) and small intestine bacterial overgrowth (SI...

BACKGROUND In pediatric settings, parents often raise concerns about possible gastrointestinal (GI) symptoms in autism spectrum disorder (ASD), yet the specificity of these concerns are not well studied. OBJECTIVE To conduct a meta-analysis of research investigating GI symptoms among children with ASD. METHODS We searched Medline, PsycINFO, and PubMed databases (1980-2012) in peer-reviewed ...

gastrointestinal stromal tumors (gists) are uncommon tumors of the gastrointestinal (gi) tract that occur predominantly in adults. these tumors originated from cajal cells have positive mutations for kit (cd117) or platelet-derived growth factor receptor (pdgfra). gist especially multiple gists are very rare in children and lacking mutations in kit. we present a previously healthy 13 year- old ...

introduction: heterotopic gastrointestinal cyst of the oral cavity is an extremely rare lesion with fewer than 40 cases reported in the english literature. it usually involves the soft tissue covering the floor of the mouth and the tongue. lining of this lesion resembles gastric or intestinal mucosa. case report: in this report we describe the lesion in two boys and discuss their pathogenesis.