Mastocitosis sistémica diagnosticada endoscópicamente / Endoscopically diagnosed systemic mastocytosis

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Endoscopically diagnosed systemic mastocytosis.

A case of endoscopically diagnosed systemic mastocytosis is presented and a brief literature review is done.

Intususcepción íleo-cólica de lipoma ileal como causa de hemorragia digestiva baja / Ileocolic intussusception of ileal lipoma as a cause of lower gastrointestinal bleeding

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Síndrome McKittrick-Wheelock: raro, pero potencialmente letal / McKittrick-Wheelock syndrome: unusual, but potentially lethal

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McKittrick-Wheelock syndrome: unusual, but potentially lethal.

McKittrick-Wheelock syndrome is characterized by extracellular volume depletion and severe fluid and electrolyte imbalance caused by secretory tumors of the rectum, usually villous adenomas. Patients usually present signs of dehydration, hyponatremia, hypokalemia, and prerenal azotemia due to the chronic diarrhea, rich in ions and water. Since this is a potencially lethal entity without treatment, and a very unusual condition, we report a clinical case. Treatment consists in surgical resection of the tumor, although endoscopy polypectomy has also been reported.

Enfermedad sistémica relacionada con IgG4 / IgG4-related systemic disease

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Absceso paraesofágico: una causa poco frecuente de disfagia en la epidermólisis ampollosa / Paraesophageal abscess: an uncommon cause of dysphagia in epidermolysis bullosa

Introducción La epidermólisis ampollosa engloba un conjunto de enfermedades caracterizadas por la formación de lesiones ampollosas en piel y mucosas ante traumatismos mínimos. La afectación gastrointestinal es casi una constante en la forma distrófica recesiva, siendo el esófago una de las localizaciones más frecuentes de las manifestaciones extracutáneas. El síntoma más común es la disfagia, habitualmente secundaria a la formación de ampollas a este nivel que condicionan la aparición posterior de estenosis esofágicas cicatriciales. Observación clínica Presentamos el caso de una paciente de 48 años con epidermólisis ampollosa distrófica recesiva remitida para estudio de disfagia, con sospecha de estenosis esofágica. La imposibilidad de progresión del gastroscopio pediátrico debido a la aparición de lesiones ampollosas en hipofaringe secundarias al roce del instrumento y la aparente existencia de una compresión extrínseca esofágica nos condujo a realizar una TC cervical para continuar el estudio, la cual mostró una imagen compatible con absceso de localización paraesofágica. Tras valorar el riesgo-beneficio de realizar punción-drenaje endoscópico, optamos por tratamiento conservador consiguiendo buenos resultados y resolución completa de la sintomatología. Conclusiones Se presenta el caso de un absceso paraesofágico asociado a epidermólisis ampollosa, una causa poco común de disfagia en estos pacientes, resuelto con tratamiento antibiótico y esteroideo. En este contexto clínico los procedimientos invasivos, incluyendo los endoscópicos, presentan una elevada tasa de éxito, no obstante y a pesar de su seguridad, es preciso extremar las precauciones, usar la técnica adecuada y considerar otras posibilidades diagnósticas(AU)

Introduction Epidermolysis bullosa encompasses a group of disorders characterized by the development of blisters on the skin and mucous membranes after minimal trauma. Gastrointestinal involvement is almost always present in the recessive dystrophic form, with the esophagus being one of the most frequent sites of extracutaneous manifestations. The most common symptom is dysphagia, which is usually secondary to esophageal blisters that evolve to scar tissue and stenosis. Case report We report the case of a 48-year-old woman with recessive dystrophic epidermolysis bullosa who was referred because of dysphagia, with suspected esophageal stenosis. Pediatric gastroscopy was abandoned due to the development of blistering of the hypopharynx caused by the instrument and the apparent presence of extrinsic esophageal compression. To continue the examination, cervical computed tomography was performed, showing an image compatible with a paraesophageal abscess. After evaluating the risk-benefit ratio of performing endoscopic biopsy-drainage, we decided on conservative treatment, achieving favorable results and complete symptom resolution. Conclusions We describe a case of paraesophageal abscess associated with epidermolysis bullosa, a rare cause of dysphagia in these patients, which was resolved with antibiotic and steroid treatment. In patients with this disease, invasive procedures, including endoscopy, have a high success rate. Despite the safety of these techniques, the utmost precautions should be taken, an appropriate technique should be used, and other diagnostic options should be considered (AU)