Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000727 (acute abdomen)
 3,084 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiomyolipoma of the liver or kidney is one of the clinical manifestations of tuberous sclerosis complex. However, concurrence of angiomyolipoma in both liver and kidney associated with tuberous sclerosis complex is a rare entity. Renal angiomyolipomas with large aneurysms confer a higher probability of rupture as compared to small aneurysms. Herein, we document a case of tuberous sclerosis coexisting with hepatic and renal angiomyolipoma in a 37 year-old woman who presented with an acute abdomen due to ruptured tumor. Computed tomography of the abdomen revealed multiple tumors over the bilateral kidneys and liver. A right nephrectomy was performed. During surgery, a liver biopsy was performed from which a preliminary diagnosis of necrosis was established. However, immunoreactivity staining using monoclonal antibody HMB-45 (Human Melanoma, Black) led to the final diagnosis of angiomyolipoma. We emphasized that pathologists and clinicians should be aware that cases of tuberous sclerosis complex may be associated with renal and hepatic angiomyolipoma. To avoid an inappropriate diagnosis, before diagnosing liver necrosis, immunohistochemical staining for HMB-45 is recommended.
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PMID:Concurrent hepatic and ruptured renal angiomyolipoma in tuberous sclerosis complex. 1560 11

Ipilimumab (anti-CTLA-4 antibody) is a new tool for the treatment of metastatic melanoma patients that has led to an improvement in survival rates worldwide. New types of toxicities have been described with ipilimumab called 'immune-related adverse events' or irAEs. Here, we report an acute and steroid resistant case of ipilimumab-induced colitis treated with infliximab in a melanoma stage IV AJCC patient. The patient presented with acute grade 3 diarrhea after the second perfusion of ipilimumab. After the administration of intravenous steroids, the patient continued to have grade 2 diarrhea with erythematous mucous with several ulceration sites on rectosigmoidoscopy. Infliximab perfusion (5 mg/kg) was performed and resulted in resolution of symptoms within 2 days with complete healing was observed by rectal sigmoidoscopy on day 7. After failure of two further lines of chemotherapy, the patient died 10 months after the diagnosis of stage IVM1C melanoma. Treatment algorithms exist for the management of these digestive adverse events; however, some points remain unclear. No predictive marker for the occurrence of this digestive toxicity has been validated to date. Modes of administration of steroids and dosage are not clearly defined, except in cases of acute abdomen; surgery is difficult to propose for patients with a poor prognosis. Infliximab is another option for the treatment of steroid-resistant ipilimumab-induced colitis but its use in metastatic melanoma raises questions of its possible impact on the evolution of cancer. We reviewed at least 19 cases published of infliximab administration for ipilimumab-mediated colitis. Unfortunately, tolerance and cancer evolution have scarcely been reported. Thus, because more patients are being treated with CTLA-4 blockade, management of ipilimumab-induced colitis requires further studies.
Melanoma Res 2013 Jun
PMID:Ipilimumab-induced acute severe colitis treated by infliximab. 2345 60

Less is known about gastrointestinal (GI) involvement of primary skin diseases due to the difference in embryology, histology, microbiology and physiology between integument and alimentary tract. Oesophagus, following the oropharyngeal mucosa, is the most common GI segment affected by primary skin diseases, especially by eosinophilic oesophagitis, lichen planus and autoimmune bullous dermatoses like pemphigus vulgaris, mucosal membrane pemphigoid and epidermolysis bullosa acquisita. Eosinophilic oesophagitis is an emerging chronic atopic disease with oesophageal dysfunction as the typical presentation, and oesophageal narrowing, rings and stricture as late complications. Oesophageal lichen planus mainly involves the proximal to mid-oesophagus in elderly aged women with long-term oral mucosal lesions. In acute attack of pemphigus vulgaris, oesophageal involvement is not uncommon but often neglected and may cause sloughing oesophagitis (oesophagitis dissecans superficialis) with acute GI bleeding in rare cases. GI manifestation of hereditary bradykininergic angio-oedema with colicky acute abdomen mostly affects small intestine, usually in the absence of pruritus or urticaria, and is more severe and long-lasting than the acquired histaminergic form. Strong evidence supports association between inflammatory bowel disease, especially Crohn disease, and hidradenitis suppurativa/acne inversa. Patients with vitiligo need surveillance of autoimmune liver disease, autoimmune atrophic gastritis or coeliac disease when corresponding symptoms become suspect. Melanoma is the most common primary tumour metastatic to the GI tract, with small intestine predominantly targeted. Gastrointestinal involvement is not uncommon in disseminated mycosis fungoides. Extramammary Paget's disease is an intraepidermal adenocarcinoma of controversial origin, and a high association between the anogenital occurrence and colorectal adenocarcinoma has been reported. As GI tract is the largest organ system with multidimensional functions, dermatologists in daily practice should be aware of the gastrointestinal morbidities related to primary skin diseases for an early diagnosis and treatment.
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PMID:Gastrointestinal involvement of primary skin diseases. 3245 73