Síndrome de Gardner-Diamond. Presentación de un caso / Gardner-Diamond syndrome: A case report

RESUMEN El sindrome de Gardner- Diamond conocido también como púrpura psicógena o síndrome de autosensibilización eritrocitaria es muy poco frecuente. Se presenta el caso de un hombre de 50 años, blanco, ingresado en el Servicio de Medicina Interna del Hospital Clínico Quirúrgico Docente "Faustino Pérez Hernández" por síndrome febril agudo, cefalea holocraneana, epistaxis y hemolacria. En el examen físico realizado se notó la salida de lágrimas con sangre, por el ángulo interno de ambos ojos y epistaxis. La inyección intradérmica en la cara dorsal del muslo izquierdo de 0,1 mL de sangre autóloga, no indujo reacción equimótica. La inyección de 0,1 mL de solución salina al 0,9 % como control en el muslo contralateral resultó negativa. Sobre la base del examen clínico y otras pruebas, se concluyó como un Síndrome de Gardner-Diamond. Esta infrecuente enfermedad debe ser considerada en el diagnóstico diferencial de un síndrome purpúrico de etiología no bien precisada, fundamentalmente en pacientes con problemas psiquiátricos (AU).

ABSTRACT The Gardner-Diamond syndrome, also known as psychogenetic purpura or erythrocyte autosensitization syndrome is very few frequent. The case of a white patient aged 50 years is presented. He entered the Service of Internal Medicine of the Teaching Clinic-surgical Hospital "Faustino Pérez Hernández" because of an acute fever syndrome, holocraneal headache, epistaxis and haemolacria. At the physical examination it was stated the flow of tears with blood, through the internal angle of both eyes and epistaxis. The intradermal injection of 0.1 ml of autologous blood in the left thigh dorsal side did not induce an ecchymotic reaction. The injection of 0.1 ml of 0.9 % saline solution as control in the contralateral side was negative. On the basis of the clinical examination and other tests, the authors arrived to the conclusion it is a Gardner-Diamond syndrome. This infrequent disease should be considered in the differential diagnosis of a purpuric syndrome of non-good précised etiology, mainly in patients with psychiatric problems (AU).

Síndrome de Gardner-Diamond. Presentación de un caso / Gardner-Diamond syndrome: A case report

RESUMEN El sindrome de Gardner- Diamond conocido también como púrpura psicógena o síndrome de autosensibilización eritrocitaria es muy poco frecuente. Se presenta el caso de un hombre de 50 años, blanco, ingresado en el Servicio de Medicina Interna del Hospital Clínico Quirúrgico Docente "Faustino Pérez Hernández" por síndrome febril agudo, cefalea holocraneana, epistaxis y hemolacria. En el examen físico realizado se notó la salida de lágrimas con sangre, por el ángulo interno de ambos ojos y epistaxis. La inyección intradérmica en la cara dorsal del muslo izquierdo de 0,1 mL de sangre autóloga, no indujo reacción equimótica. La inyección de 0,1 mL de solución salina al 0,9 % como control en el muslo contralateral resultó negativa. Sobre la base del examen clínico y otras pruebas, se concluyó como un Síndrome de Gardner-Diamond. Esta infrecuente enfermedad debe ser considerada en el diagnóstico diferencial de un síndrome purpúrico de etiología no bien precisada, fundamentalmente en pacientes con problemas psiquiátricos.

ABSTRACT The Gardner-Diamond syndrome, also known as psychogenetic purpura or erythrocyte autosensitization syndrome is very few frequent. The case of a white patient aged 50 years is presented. He entered the Service of Internal Medicine of the Teaching Clinic-surgical Hospital "Faustino Pérez Hernández" because of an acute fever syndrome, holocraneal headache, epistaxis and haemolacria. At the physical examination it was stated the flow of tears with blood, through the internal angle of both eyes and epistaxis. The intradermal injection of 0.1 ml of autologous blood in the left thigh dorsal side did not induce an ecchymotic reaction. The injection of 0.1 ml of 0.9 % saline solution as control in the contralateral side was negative. On the basis of the clinical examination and other tests, the authors arrived to the conclusion it is a Gardner-Diamond syndrome. This infrequent disease should be considered in the differential diagnosis of a purpuric syndrome of non-good précised etiology, mainly in patients with psychiatric problems.

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.

CONTEXT.­: Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. Greater than 70% of patients with this syndrome also develop extraintestinal manifestations, such as multiple osteomas, dental abnormalities, and a variety of other lesions located throughout the body. These manifestations have historically been subcategorized as Gardner syndrome, Turcot syndrome, or gastric adenocarcinoma and proximal polyposis of the stomach. Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene (APC), supporting a spectrum of disease as opposed to subcategorization. Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP. OBJECTIVE.­: To provide a comprehensive clinicopathologic review of neoplastic and nonneoplastic entities associated with FAP syndrome, with emphasis on recent developments in immunohistochemical and molecular profiles of extraintestinal manifestations in the thyroid, skin, soft tissue, bone, central nervous system, liver, and pancreas, and the subsequent changes in classification schemes and risk stratification. DATA SOURCES.­: This review will be based on peer-reviewed literature and the authors' experiences. CONCLUSIONS.­: In this review we will provide an update on the clinicopathologic manifestations, immunohistochemical profiles, molecular features, and prognosis of entities seen in FAP, with a focus on routine recognition and appropriate workup of extraintestinal manifestations.

The cutaneous manifestations of gastrointestinal malignancy.

The skin is often the herald of an underlying systemic illness, and gastrointestinal malignancies can present in numerous ways in the skin. Paraneoplastic phenomenon, such as acanthosis nigricans and tripe palm, may be the first indicator of a gastrointestinal malignancy. In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflammatory systemic conditions such as dermatomyositis and multicentric reticulohistiocytosis can be associated with underlying malignancy. Finally, in numerous genetic syndromes with underlying malignancies, such as Muir-Torre, recognition of the skin signs leads to early diagnosis and screening.

Múltiples osteomas en región cráneo maxilofacial. Reporte de dos casos / Osteomas multiple in the craniofacial región. Report of two cases

Los osteomas son lesiones benignas de crecimiento lento, progresivo, asintomáticas (salvo que por su tamaño afecten a estructuras adyacentes), localizadas frecuentemente en el esqueleto cráneo facial, de etiología poco clara, presentes a cualquier edad y sin predilección de género. Suelen ser solitarios o múltiples, a menudo asociados al Síndrome de Gardner. Para el diagnóstico se requiere de una evaluación clínica, imagenológica e histopatológica, su tratamiento dependerá de los problemas estéticos o funcionales que causen, el cual consiste en la remoción quirúrgica y la osteotomía modeladora. El propósito de este reporte, es dar a conocer dos casos de pacientes de diferente género y edad, que acudieron a la Unidad de Estomatología y Cirugía Buco-Maxilofacial del Hospital de Clínicas Universitario (La Paz-Bolivia), quienes presentaron osteomas múltiples en la región craneomáxilofacial, sin evidencia clínica (al momento del examen) de manifestaciones intestinales y cutáneas por lo que se estableció que no estuvieron asociados al Síndrome de Gardner. El tiempo de evolución, la poca frecuencia de reportes de lesiones múltiples en nuestro país (Bolivia), la alteración estética y funcional debido a las grandes dimensiones alcanzadas, ya que requirieron una intervención quirúrgica para su resolución, nos lleva a la presentación de estos casos...

The osteomas are a group of slow growth, progressive and asymptomatic benign lesions (except for its size affect adjacent structures), these lesions are located in the skull and facial bones, of unclear etiology, they can appear at any age without genre predilection. They can be found alone or can be multiple, frequently associated Gardner Syndrome. To make a correct diagnostic requires clinical, imaging and histopathological assessment. Treatment depends on the aesthetic or functional problems that may cause, consisting in surgical removal and styling ostheotomy. The purpose of this report is to present two patient cases of different genre and age, attending la Stomathology and Oral and Maxillofacial Surgery Unit of the Hospital Clinicas (La Paz-Bolivia) with multiple osteomas at craniomaxillofacial region, without clinical manifestations when intestinal and cutaneous evidence therefore states that it is not associated with Gardner syndrome; time evolution, infrequently reported multiple injuries in our country, esthetic and functional alteration due to the large size reached, requiring surgical intervention for resolution, leads to the presentation of these cases...

Rapidly expanding brain mass.

Amebic encephalitis is an uncommon central nervous system infection, usually caused by Acanthamoeba spp., which generally occurs in immunocompromised individuals. The infection might start from a minor, slowly progressive, skin ulceration that can be present for weeks to months before neurologic changes occur. We present a 40-year-old male with multiple visceral allografts, on immunosuppression, 9 months after transplantation. He had an active skin rash previously diagnosed as graft-versus-host disease by biopsy. The condition of the patient declined rapidly.

Desmoid tumors and deep fibromatoses.

Desmoid tumors (also called deep fibromatoses) are rare benign tumors associated with pregnancy and Gardner syndrome. These tumors are characterized by bland-appearing fibroblasts, indistinct margins, and an ability to cause pathology by local invasion and recurrence. They arise in the abdominal cavity, in the abdominal wall, or in the extremities/trunk, each with a slightly different biologic behavior. Though they are not cancer and do not metastasize, desmoids can cause significant morbidity and occasionally death through local/regional invasion of critical structures. Treatment primarily is surgical, although radiation or systemic therapy can be beneficial to the patient when surgery is not feasible. This article highlights the biology and clinical features of desmoid tumors.

Fundic gland polyps: a still elusive entity on the eve of the year 2000.

Fundic gland polyps (FGPs) are tiny multiple sessile polyps of the acid-secreting gastric mucosa. They have been described both in a sporadic form, mainly in middle-aged females, and in a syndromic form, associated with familial adenomatous polyposis (FAP)-Gardner's syndrome and attenuated variants (AFAP). They share the same histology, characterised by superficial and deep cystic dilatations, shortened gastric pits, with an inconspicuous lamina propria. They have been for a long time described as innocuous lesions, but some recent reports have shown that FGPs may harbour dysplastic foci and ultimately (particularly syndromic polyps) gastric cancer. Factors influencing their genesis are unknown. A circulating factor in FAP patients has been postulated and a role of female hormones has been suggested for sporadic FGPs. Whereas patients with sporadic FGPs have normal basal acid output, normal fast serum levels of gastrin and pepsinogen I, the role of gastrin seems crucial for the development of cystic changes in flat body-fundus mucosa, and for the appearance of FGPs in patients with Zollinger-Ellison syndrome. A role of H. pylori induced gastritis has been excluded. Actually, patients with both sporadic and syndromic FGPs appear consistently free from H. pylori colonisation, again for an unknown factor(s). Some recent reports have claimed a role for omeprazole in the genesis of FGPs, a highly controversial issue. Ultimately, the nature of FGPs is still debated: some have interpreted them as hamartomatous lesions, others as a peculiar form of hyperplastic polyp.

Poliposis multiple familiar / Familiar multiple polyposis

La poliposis múltiple familiar del colon es una afección muy poco frecuente en nuestro país y de la cual se presenta una serie de 11 casos clínico comprobados, con un seguimiento de hasta 29 años. Es una enfermedad hereditaria, dominante y autosómica, la que siendo claramente precancerosa se hace hincapié en su tratamiento y control posterior de por vida por su alta incidencia de cáncer de colon y recto. Se discuten las diferentes alternativas quirúrgicas, con sus ventajas y desventajas, inclínandonos por la colectomía total con íleo-rectoanastomosis. En el control postoperatorio no sólo debe prestarse atención al muñón rectal, sino también buscar manifestaciones extracolónicas que dan lugar a diversos síndromes como el de Gardner y el de Turcot. Se revisa la literatura nacional y extranjera, haciendo un apuesta al día del tema

Pre-Gardner's syndrome, thyroglossal cysts and undifferentiated tumor of neural crest origin.

A child with a malignant undifferentiated adrenal medullary tumor of neural crest origin, removed at six months of age, was treated with chemotherapy and is alive without evidence of cancer after seven years. He developed osteomas of the skull, a thyroglossal cyst and has had one episode of gastrointestinal bleeding. A three-generation history of multiple colonic polyposis and colon cancer, osteomas, recurrent pancreatitis, and Wilms' tumor was elicited. One of three females in this family, with direct lineage from polyposis afflicted fathers, exhibited Gardner's Syndrome and Wilms' tumor. The constellation of tumors afflicting this family may represent an underlying defect of excessive cell proliferation affecting mesenchymal and neuroblastic tissue. These may be extracolonic conditions associated with Gardner's Syndrome.

Gardner's syndrome. Recent developments in research and management.

In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1-7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to understand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is essential for surgeons, gastroenterologists, cancer researchers, and geneticists alike. To the clinician, it poses difficult challenges in management; to the cancer researcher, it presents a rare opportunity to study very early premalignant transformations; and to the geneticist, it poses exciting questions at the cellular, chromosomal, and molecular levels.