Síndrome de Bean y albinismo: reporte del primer caso en Ecuador

Abstract

Blue Rubber Bleb Nevus syndrome (BRBNS) or its acronym Bean syndrome is characterized by venous malformations (MV) distributed in multiple anatomical areas, predominantly in the skin and gastrointestinal (GI) tract. Symptomatology is commonly manifested with hemorrhagic episodes and consequent chronic secondary anemia due to deficit. We present the clinical case of a female albino patient of 68 years of age, who came for acute abdominal pain to this we add a chronic rectorrhagia, when performing the physical examination, the presence of venous malformations (MV) characterized by bluish, compressible and heterogeneous nodules, located in the lower lip, chin, perianal region and extremities, as well as pain on palpation in the right hypochondrium. The laboratory analysis revealed low hemoglobin and hematocrit values and other parameters suggestive of iron deficiency anemia, in the colonoscopy report multiple venous malformations (MV) were disseminated, disseminated with rectal predominance, the diagnosis was compatible with Bean Syndrome by the association of MV in skin and Gastrointestinal tract and secondary chronic anemia. The management was clinical symptomatic and palliative surgery, with a favorable evolution. The association of albinism and Bean syndrome are not reported in the international medical literature, considering this the first case in Ecuador as a not very frequent pathology but with important secondary complications, this syndrome should be included as a cause of harmless venous malformations, digestive bleeding, chronic anemia and occlusive effects of hollow viscera