Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. [ncbi.nlm.nih.gov]

Patients present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. [orpha.net]

• Prominent Cheeks

  His physical examination demonstrated the following: Body weight, 6,500 g ( 3rd centile); height, 71 cm ( 3rd centile); poorly pigmented wooly hair; facial dysmorphism, including squared forehead, prominent cheeks, a broad nasal root and hypertelorism [spandidos-publications.com]

Early diagnosis would save patients from unnecessary workups. 1. [hindawi.com]

The immunological workup included analyses of lymphocyte populations with T- and B-cell-specific antibodies, lymphocyte markers, blastogenesis, and immunoglobulin levels. [saudijgastro.com]

By contrast, lipid-containing macrophages are present in the lamina propria in several storage disorders in which digestive symptoms can occasionally be significant and in which an intestinal biopsy is obtained in the course of a workup for failure to [clinicalgate.com]

All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect. [ncbi.nlm.nih.gov]

Reference is easy thanks to a unique 3-part structure covering general aspects of treatment; reviews of every agent; and details of treatments of particular infections. [books.google.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis Prognosis is poor with a mortality rate of up to 50%. The main complications are severe liver disease and infections. [orpha.net]

Prognosis - Tricho-hepato-enteric syndrome Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition). [checkorphan.org]

The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. [ncbi.nlm.nih.gov]

Moreover we are yet far from developing a way to control the etiology in many cases. Trichoenterohepatic syndrome was first described by Stankler et al. in 1982 [2]. [hindawi.com]

Etiology Autosomal recessive mutations in SKIV2L (40% of cases) and TTC37 (60% of cases) lead to SD/THE. These genes encode proteins that form the Ski complex, a group of proteins responsible for the 3'-5' degradation of aberrant mRNA. [orpha.net]

View Article PubMed Google Scholar Guarino A, Spagnuolo MI, Russo S, Albano F, Guandalini S, Capano G, Cucchiara S, Vairano P, Liguori R, Casola A: Etiology and risk factors of severe and protracted diarrhea. [ojrd.com]

To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence is Clinical description Severe, persistent and intractable diarrhea most often starts within the first month after birth (at latest 6 months) and is accompanied by severe malabsorption resulting in early and relentless [orpha.net]

To date, no epidemiological data are available. However, the prevalence can be estimated at around 1/300,000–400,000 live births in Western Europe. [ojrd.com]

[…] majority of children with liver disease or with liver transplantation today survive well into adulthood.In this book, world experts in the now established subspecialty of pediatric hepatology provide a comprehensive summary of the latest advances in pathophysiology [books.google.com]

Practical Management Of Travellers Diarrhea Rethinking Prevention Travelers Diarrhea In Thailand A Quantitative Analysis Using Vien Sot Ret Ky Sinh Trung Con Trung Quy Nhon Keratoderma Blennorrhagica As A Result Of Reactive Arthritis Amebiasis Background Pathophysiology [solherbsrecipe.blogspot.com]

Prevention - Tricho-hepato-enteric syndrome Not supplied. [checkorphan.org]

Case status was not associated with whether or how patients received prevention messages. [ajph.aphapublications.org]

Can diarrhea be prevented? Two types of diarrhea can be prevented - rotavirus diarrhea and traveler's diarrhea. There are vaccines for rotavirus. They are given to babies in two or three doses. [medlineplus.gov]

Important information Legal Disclaimer Statements regarding dietary supplements have not been evaluated by the FDA and are not intended to diagnose, treat, cure, or prevent any disease or health condition. [amazon.com]

Treatment of Periodontal Diseases Completed NCT02538237 Phase 2, Phase 3 placebo;Ibuprofen 2% mouthwash 11 Impact Of Different Ablation Approaches on Outcome In Coexistent Atrial Fibrillation and Flutter Completed NCT01439386 Phase 3 12 Nt-proBNP Guided Prevention [malacards.org]