Colangiocarcinoma y hepatocolangiocarcinoma combinado en pacientes con cirrosis / Cholangiocarcinoma and combined hepatocellular-cholangiocarcinoma in cirrhotic patients

Background: Cholangiocarcinoma (CCA) is a primary hepatic tumor, frequently found in patients with liver cirrhosis and biliary tract diseases. Its varieties include isolated CCA or "combined hepatocellular-cholangiocarcinoma" (cHCC-CCA). The latter is uncommon, with poorly defined diagnostic criteria and natural history. Aim: To characterize patients with cirrhosis with a pathological diagnosis of CCA and cHCC-CCA. Material and Methods: Forty-nine liver biopsies with a pathological diagnosis of CCA were reviewed. The clinical records of patients were reviewed to fetch demographic variables, etiology of cirrhosis and clinical presentation. Results: Eight of the 49 patients had cirrhosis (16% of CCA biopsies reviewed). Their median age was 64 (27-71) years and five were females. Four patients had CCA, three patients cHCC-CCA and one had a bifocal tumor. Patients in the CCA group were more commonly symptomatic. Alpha-fetoprotein and CA 19-9 levels were elevated in one of eight and four of six patients, respectively. Within 12 months from diagnosis, five of eight patients died. Conclusions: In most of these cases, the diagnosis of cHCC-CCA and CCA was made in the liver explant study without previous imaging diagnosis. This reinforces the usefulness of the histological study, in specific cases, prior to liver transplantation and emphasizes the importance of systematic explant exploration in these cases.

Consenso chileno de diagnóstico y manejo de neoplasias quísticas pancreáticas. Club de páncreas Chile-SCHGE

Pancreatic cystic neoplasms (PCN) are frequently detected on abdominal images performed for non-pancreatic indications. Their prevalence in asymptomatic population ranges from 2.7 to 24.8%, and increases with age. There are several types of pancreatic cysts. Some may contain cancer or have malignant potential, such as mucinous cystic neoplasms, including mucinous cystadenoma (MCN) and intraductal papillary mucinous neoplasms (IPMN). In contrast, others are benign, such as serous cystadenoma (SCA). However, even those cysts with malignant potential rarely progress to cancer. Currently, the only treatment for pancreatic cysts is surgery, which is associated with high morbidity and occasional mortality. The Board of the Chilean Pancreas Club of the Chilean Gastroenterology Society developed the first Chilean multidisciplinary consensus for diagnosis, management, and surveillance of PCN. Thirty experts were invited and answered 21 statements with five possible alternatives: 1) fully agree; 2) partially agree; 3) undecided; 4) disagree and 5) strongly disagree. A consensus was adopted when at least 80% of the sum of the answers "fully agree" and "partially agree" was reached. The consensus was approved by the Board of Directors of the Chilean Pancreas Club for publication.

Tumores hepáticos primarios malignos no hepatocarcinoma ni colangiocarcinoma / Primary malignant hepatic tumors other than hepatocarcinoma or cholangiocarcinoma: a series of cases

Background: There are several types of primary malignant hepatic tumors (PMHT) other than hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC): they are infrequent and poorly known. Imaging studies could help characterize the lesions and may guide the diagnosis. However, the definitive diagnosis of PMHT is made by pathology. Aim: To review a registry of liver biopsies performed to diagnose hepatic tumors. Patients and Methods: Review of a pathology registry of liver biopsies performed for the diagnosis of liver tumors. Among these, 25 patients aged 57 ± 17 years, 60% males, in whom a liver tumor other than a HCC or CC was diagnosed, were selected for review. The medical records of these patients were reviewed to register their clinical characteristics, imaging and the pathological diagnosis performed during surgery and/ or with the percutaneous liver biopsy. Results: Ten patients (40%) had neuroendocrine tumors, six (24%) had a lymphoma and four (16%) had hepatic hemangioendothelioma. Angiosarcoma and sarcomatoid carcinoma were diagnosed in one patient each. In 22 patients (88%), neither clinical features nor imaging studies gave the correct diagnosis. Four patients (16%) had chronic liver disease. The most frequent symptoms were weight loss in 28% and abdominal pain in 24%. Conclusions: The most common PMHT other than HCC and CC were neuroendocrine tumors and lymphomas. Imaging or clinical features were not helpful to reach the correct diagnosis.

El polimorfismo rs12979860 C> T en el gen Interferón lambda 4 no está asociado a riesgo de fibrosis hepática en pacientes chilenos con hepatitis crónica por virus C / Interferon Lambda 4 RS12979860 C> T polymorphism is not associated with liver fibrosis in patients with hepatitis C

Background. Host genetic predispositions may be important determinants of liver fibrosis in patients with chronic hepatitis C (CHC). The association between Interferon-L 4 (IFNL4) rs12979860 C>T polymorphism and risk of liver fibrosis in CHC is contradictory. Aim: To evaluate the impact of IFNL4 rs12979860 polymorphism on the risk of fibrosis in patients with CHC. Material and Methods: One hundred fifty patients with CHC aged 50 ± 11 years (89 females) were genotyped for IFNL4 rs12979860 using real time PCR. Fibrosis present in liver biopsies was assessed using the METAVIR score, comparing patients with either no fibrosis, mild fibrosis, or intermediate fibrosis (F0+F1+F2, n = 96), with patients with severe fibrosis or cirrhosis (F3+F4, n = 54). Results: In F0-F2 patients the distribution of rs12979860 genotypes was 22 CC, 57 CT and 17 TT, whereas in patients F3-F4 the distribution was 10, 29 and 15, respectively. No association between IFNL4 rs12979860 genotype and risk of fibrosis was observed in uni or multivariate analyses. Conclusions: IFNL4 rs12979860 C>T polymorphism is not associated with risk of liver fibrosis in this group of patients with CHC.

Enfermedad de Still del adulto, a propósito de un caso: un desafío diagnóstico / Still disease of the adult, about a case: a diagnostic challenge

La enfermedad de Still del adulto (ESA) es una patología inflamatoria sistémica infrecuente, que se caracteriza por la tríada de fiebre, exantema evanescente y artralgias. Mujer de 57 años con historia de 7 meses de lesiones tipo máculas-habones asalmonadas, en relación a peaks febriles intermitentes. Asocia odinofagia, mialgias y artralgias. En los exámenes destaca anemia leve, VHS, PCR y ferritina elevadas. Estudio viral e inmunológico negativo. La tomografía computada de tórax, abdomen y pelvis (TC-TAP) reveló múltiples adenopatías axilares, pélvicas y esplenomegalia. La biopsia cutánea y de un linfonodo axilar, descartó patología vasculítica y neoplásica respectivamente, apoyando el diagnóstico de ESA. Se trató con prednisona 40 mg/día, con buena respuesta y sin recidivas. La ESA constituye un verdadero desafío diagnóstico, pues su clínica inespecífica y la ausencia de marcadores propician un diagnóstico tardío. Su pronóstico se relaciona con un tratamiento precoz, por lo que es fundamental un diagnóstico oportuno.

Adult-onset Still's disease (ESA) is an infrequent systemic inflammatory pathology, characterized by the triad of febrile syndrome, evanescent rash and arthralgias. A 57-year-old woman with a 7-months history of salmon-colored rash in relation to intermitent febrile peaks, asociated with odynophagia, myalgias and arthralgias. General exams showed mild anemia, elevated ESR, CRP and ferritin. Viral and immunological studies were negative. Computed tomography of the chest, abdomen and pelvis revealed multiple axillary and pelvic lymph nodes and splenomegaly. The skin and axillary lymph node biopsies, ruled out vasculitic and neoplastic pathologies respectively, supporting the diagnosis of ESA. Prednisone 40 mg daily was administered with good response and no evidence of recurrence. No evidence of relapse in subsequent controls. ESA reprsents a great diagnostic challenge, since its nonspecific clinic and the absence of pathognomonic studies lead to a late or erroneous diagnosis. Its prognosis is related to an early treatment; therefore it is essential to make en early diagnosis.

Enfermedad de Hailey- Hailey: reporte de casos entre los años 2001 y 2016 en un hospital universitario y revisión de la literatura / Hailey-Hailey disease: case report among the years 2001 and 2016 in a university hospital and review of the literature

Introducción: La enfermedad de Hailey-Hailey (pénfigo crónico familiar benigno) es una dermatosis ampollar, de evolución crónica, recidivante, autosómica dominante, de penetrancia y expresividad variables, localizada predominantemente en los pliegues. Métodos: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital Clínico Universidad de Chile (HCUCH) entre los años 2001 y 2016 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas. Resultados: Se obtuvo un total de 6 casos ilustrativos de la patología en estudio. Discusión y conclusiones: La enfermedad de Hailey-Hailey es una genodermatosis poco frecuente cuyo diagnóstico y tratamiento constituyen un desafío para el dermatólogo.

Background: The Hailey-Hailey disease (familial benign chronic pemphigus) is a bullous dermatosis, with chronic and recurrent evolution, autosomal dominant with variable penetrance and expressivity, localized predominantly in the folds. Methods: A review of the database of the Anatomic Pathology Service of the Hospital Clínico Universidad de Chile (HCUCH) between 2001 and 2016 was carried out and supplemented with the clinical history extracted from the clinical records. Results: A total of 6 illustrative cases of the pathology under study were obtained. Discussion and conclusions: Hailey-Hailey's disease is a rare genodermatosis whose diagnosis and treatment is a challenge for the dermatologist.

Síndrome de nevo de Becker con características ictiosiformes / Becker's nevus syndrome with ichthyosiformes features

El nevo de Becker, es un hamartoma cutáneo benigno de etiología desconocida, que se presenta como una mácula hiperpigmentada de bordes geográficos. Por lo general, se ubica en la región torácica superior y su compromiso tiende a ser unilateral. Ocasionalmente el nevo de Becker se asocia a anomalías en el tejido óseo, muscular o cutáneo, siendo la ictiosis una característica muy infrecuente. La presencia de alguna de estas anomalías asociadas a un Nevo de Becker determina el síndrome del Nevo de Becker. Paciente de sexo masculino de 18 años, que consultó por un cuadro iniciado en la infancia, caracterizado por la aparición de manchas cafés, escamosas, pruriginosas que inicialmente se ubicaron en las extremidades inferiores y con el tiempo fueron apareciendo en tronco, región lumbar y glútea. Mediante la correlación clínico-patológica se llegó al diagnóstico de Nevo de Becker, con características ictiosiformes. Se realizaron estudios complementarios con ecocardiograma Doppler y radiografía de tórax, que resultaron normales y una ecotomografía Doppler color de tórax anterior que mostró una leve ginecomastia bilateral con discreto aumento del botón mamario derecho y una leve hipoplasia del pectoral mayor derecho diagnosticándose Síndrome de Nevo de Becker. La mayoría de los reportes de Síndrome de nevo de Becker describen anomalías como escoliosis o hipoplasia unilateral de la mama, con escasos reportes sobre ictiosis. Se reporta este caso por su presentación atípica con múltiples nevos de Becker, compromiso de hemicuerpo inferior y su asociación ictiosiforme poco descrita en la literatura.

Becker's nevus is a benign cutaneous hamartoma of unknown etiology; it appears as a hyperpigmented macula with geographical borders. Usually it is located in the upper thoracic region, unilaterally. Occasionally Becker nevus is associated with abnormalities in the bony, muscle or skin tissue, being ichthyosis an unusual feature. The presence of some of these anomalies associated with Becker´s nevus determine the Becker´s nevus syndrome. Male patient of 18 years old who had a clinical history that begun in childhood, characterized by the appearance of brown, scaly, itchy patch that initially were located in the lower extremities and eventually were appearing in the trunk, lumbar and gluteal area. The clinical-pathological correlation led us to the diagnosis of Becker´s nevus with ichthyosiform features. Additional studies were performed such as Doppler echocardiography and chest radiograph, both normal. Color Doppler ultrasonography of anterior chest showed a slight bilateral gynecomastia with discrete increase of the right breast and a slight hypoplasia of the right major pectoral, determining a Becker´s nevus syndrome. Most reports of Becker´s nevus syndrome described abnormalities such as scoliosis or unilateral breast hypoplasia, few cases have been reported with ichthyosis. This case is reported for its atypical presentation with multiple Becker´s nevus, compromise of the lower body and its ichthyosiform association, rarely described in the literature.

Tumor mixto cutáneo apocrino, un desafío diagnóstico a considerar / A mixed cutaneous apocrine tumors, a diagnostic challenge to to consider

El tumor mixto cutáneo es una neoplasia se aparición inusual al que se ha denominado también siringoma condroide. Se reporta un caso de Tumor mixto benigno apocrino en una paciente de 63 años. Paciente mujer de 63 años, con lesión tumoral de un año de evolución en zona frontal, asintomática. La ecografía de partes blandas fue compatible con lesión quística y el estudio histológico mostró la presencia de una neoplasia mixta benigna epitelial estromal, correspondiente a un tumor mixto benigno apocrino. Los tumores mixtos benignos apocrinos son neoplasias poco frecuentes, localizadas en las glándulas sudoríparas. Se caracterizan por presentarse como un nódulo subcutáneo o intradérmico, solitario, que puede alcanzar hasta 3 cm. de diámetro. Son asintomáticos y de crecimiento lento. Su principal ubicación corresponde a la cabeza y cuello y predominan en pacientes de sexo masculino, de edad media. El diagnóstico de certeza es histopatológico, encontrándose a la microscopía un patrón epitelial compuesto por estructuras tubulares, ductales, túbulo-alveolares o áreas sólidas con diferenciación pilo-sebácea focal, en un estroma que puede ser mixoide o condroide Se presenta este caso por ser un tumor de baja frecuencia, cuyo diagnóstico es esencialmente histopatológico y cuya terapia resolutiva es la extirpación quirúrgica completa.

Apocrine mixed tumor of the skin: a diagnosis challenge to consider. Cutaneous mixed tumor is an uncommon, benign adnexal neoplasm arising from apocrine or eccrine glands of the dermis. Apocrine mixed tumors often exhibit decapitation secretion, a feature of apocrine epithelium, but they may exhibit a wide range of metaplastic changes and differentiation in the epithelial, the myoepithelial, and the stromal components. We present two clinical cases of Apocrine mixed tumour of the skin in two different patients who have seen in our Department.

Dermatosis purpúrica pigmentaria, variante granulomatosa, a propósito de un caso / Granulomatous variant of chronic pigmented purpuric dermatosis: case report

La dermatosis purpúrica pigmentaria (DPP) corresponde a un grupo de enfermedades caracterizadas clínicamente por petequias y coloración bronce de la piel. Generalmente se localiza en las extremidades inferiores y se describen varios tipos, dentro de los cuales se encuentra la variante granulomatosa. Se trata de una dermatopatía benigna, poco frecuente, de etiología aún no precisada y de difícil manejo. Se presenta el caso de una paciente de 48 años, sexo femenino, sin antecedentes mórbidos, que es derivada a dermatología desde reumatología, con el diagnóstico clínico de vasculitis, por la aparición de lesiones maculares y papulares eritematovioláceas, confluentes y pruriginosas en extremidades. Presenta todos sus exámenes normales. Se planteó, entonces, una acroangiodermatitis o liquen plano. Sin embargo, fue necesario llegar al estudio histopatológico para llegar al diagnóstico de dermatosis purpúrica pigmentaria, variante granulomatosa. Si bien se considera que la DPP granulomatosa es una entidad poco frecuente, la literatura sugiere que es una entidad subdiagnosticada. Se debe plantear como diagnóstico diferencial de lesiones cutáneas en extremidades inferiores, lo que determina la importancia de realizar el estudio histopatológico. De esta forma, la DPP granulomatosa será cada vez más común y se plantearán alternativas de tratamiento mejores a las actuales.

The pigmented purpuric dermatoses are a group of diseases characterized clinically by petechiae and bronze skin color, usually affecting the lower extremities. Several types are described and one of them is the granulomatous variant. This is a still rare and benign skin disease of unknown etiology. We present the case of a 48 years old female, previously healthy, derived from rheumatology to dermatology, with the clinical diagnosis of vasculitis due to the presence of confluent erythematous macular and papular lesions, mildly pruritic in lower extremities. Her tests were all in normal ranges. Therefore, an acroangiodermatitis or lichen planus were considered. However, it was necessary to perform a histopathology study to reach the final diagnosis of granulomatous pigmented purpuric dermatosis. It is considered that Granulomatous DPP is a rare entity, but the literature suggests that it is underdiagnosed. It should always be considered as a differential diagnosis of cutaneous lesions located in lower extremities, which determines the importance of histopathology. Thus, the granulomatous DPP will become more common and will be posible to propose better treatment alternatives.

Síndrome de Buschke-Ollendorf: reporte de un caso y revisión de la literatura / Buschke-Ollendorf syndrome: a case report and literature review

El Síndrome de Buschke-Ollendorf es una rara entidad, descrita por primera vez en 1928. Se caracteriza por la asociación de nevos del tejido conjuntivo y osteopoiquilia. Es una patología de origen multifactorial. Causas genéticas han sido descritas. Dado que es una enfermedad benigna y que no se ha demostrado asociación con otras patologías, no requiere tratamiento y tiene buen pronóstico. Su importancia radica en el diagnóstico diferencial respecto de otras patologías complejas y severas. Se presenta el caso de una niña de 8 años de edad, que presenta desde los 2 años lesiones papulares en región glútea y zona lumbar izquierda, cuyo estudio histológico evidencia nevos de tejido conectivo. Presenta estudio radiológico que muestra la presencia de imágenes sugerentes de osteopoiquilia en fémur y cadera. La asociación de ambas entidades clínicas configura el diagnóstico de Síndrome de Buschke-Ollendorf. Se presenta el caso clínico y revisión de la literatura.

The Buschke-Ollendorf syndrome is a rare entity, first described in 1928 and is characterized by the association of connective tissue nevi and osteopoikilosis. It´s a disease of multifactorial origin. Genetic causes have been described. Since it is a benign disease and no association with other diseases have been proved, it doesn´t require treatment and has a good prognosis. It´s importance lies in the differential diagnosis with other complex and severe pathologies. We present the case of an 8-year-old girl with long lasting papular lesions in left buttock and lower back, which histological study showed connective tissue nevi. The radiological study showed suggestive images of osteopoikilosis in femur and hip. The association of both clinical entities suggest the diagnose of Buschke-Ollendorf syndrome. Clinical case and review of the literature is presented.

Tumores gastrointestinales estromales (GIST): Experiencia del Servicio de Cirugía del Hospital Clínico de la Universidad de Chile entre 1999 y 2005 / Gastrointestinal stromal tumors: Review of 15 patients

Background: Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous tumors of the digestive tract. The pathological diagnosis is based on microscopy and immunohistochemistiy. Aim: To review the experience of our surgical unit in patients with GIST Material and methods: Review of medical records of 15 patients (aged 66+13 years, 11 women), with a pathological diagnosis of GIST, treated between 1999 and 2005. Results: The main presenting symptoms were melena in 40 percent, hematemesis in 20 percent, abdominal pain in 60 percent and anemia in 13 percent. In only one patient, the tumor appeared as an incidentaloma. All patients underwent upper gastrointestinal endoscopy A CAT scan was done in 87 percent, a barium swallow in 60 percent and a digestive endosonography in 20 percent. Thirteen tumors were located in the stomach and two in the small bowel. Mean tumor diameter was 5.3+1.7 cm. Surgical management was a tumor resection in 40 percent, a partial gastrectomy in 27 percent, a total gastrectomy in 20 percent and an intestinal excision in the rest. Mean hospital stay was 6.9+4.2 days. No postoperative complications were recorded. Conclusions: The main clinical presentation of GIST in this retrospective series was an upper gastrointestinal bleeding. Surgical treatment was devoid of complication.

Análisis de pacientes apendicectomizados con anatomía patológica negativa para apendicitis aguda / Analysis of appendicectomized patients with negative pathological results to acute appendicitis

La apendicitis aguda es la intervención quirúrgica más frecuente efectuada en los servicios de urgencia. La clínica sigue siendo el método de elección para efectuar el diagnóstico, dado que hasta el momento los métodos de laboratorio e imágenes no han logrado superar los rendimientos de la clínica, si bien se han constituido en una importante ayuda. En este trabajo se evalúan los casos de pacientes operados por apendicitis aguda, pero con informe histopatológico negativo para esa enfermedad. Ellos corresponden a un bajo porcentaje del total de apendicectomías (4 por ciento), lo que probablemente obedece a un buen estudio clínico y el apoyo de laboratorio e imágenes disponible, además de que la laparoscopía diagnóstica ha disminuido la frecuencia de apendicectomías en blanco. Cuatro de los pacientes correspondieron a otras patologías graves con compromiso apendicular como ser cáncer o enfermedad de Crohn. La morbimortalidad de esta serie correspondió a estos últimos pacientes

Fasicioliasis hépatica que simularon tumores hepáticos / Hepatic fascioliasis simulating hepatic tumors

Two cases of fascioliasis which simulated tumors are presented: Patient 1. (42-years-old woman), presented pain in the epigastric and right hypochondrium US. CAT and MNR suggested a cholangiocarcinoma. She was operated on by practicing hepatic segmentectomy, cholecystectomy and closign of a cholecystogastric fistula. The extirpated hepatic segment presented a tumoral aspect, but its histopathological study revealed numerous granulomas, some of them with F. hepatica eggs and others with Charcot-Leyden crystals. ELISA and complement fixation reaction for fascioliasis resulted positive. Search of F. hepatica eggs in stools was negative. The patient was treated with triclabendazole. Patient 2. (58-years-old woman) also presented pains in the upper hemiabdomen. Hypereosinophilia (32 percent). Abdominal CAT showed multiple hipodense irregular zones suggesting infiltrative processes in the liver right lobe. The hepatic biopsy, under CAT, eventhough lead to think in a hamartoma, a diagnosis of chronic cholangitis compatible with a parasitic etiology raised. ELISA and complement fixation reaction for fascioliasis were positive. Copropasitological exams for F. hepatica resulted negative. She was successfully treated with triclabendazole. Hepatic fascioliasis simulates numerous diseases, among them hepatic tumors

Enfermedad de Rosai Dorfman: un caso de ubicación intra-parotídea / Rosai Dorfman disease: an intraparotid location

La histiocitosis sinusal con linfoadenopatía masiva, también conocida como enfermedad de Rosai Dorfman, consiste en una proliferación benigna de tejido fibroso y hematopoiético ubicado generalmente en cabeza y cuello. Es una patología infrecuente, habiéndose publicado cerca de 400 casos en la literatura mundial. La clave del diagnóstico histológico consiste en el hallazgo de histiocitos anormales que contienen linfocitos (emperipolesis), positivos con tinciones immunohistoquímicas para S 100 y negativo para CD1. En los estudios de imágenes raramente se sospecha el diagnóstico, especialmente por la escasa prevalencia y conocimiento de esta patología. Se trata de una enfermedad benigna, autolimitada, cuyo tratamiento generalmente se limita a la resección quirúrgica. Esta permite extirpar el tumor en estudio, realizar el diagnóstico, y aliviar la sintomatolología producida por el efecto masa de la lesión. El pronóstico es excelente sin existir evidencia de recidiva, ni de transformación maligna. Presentamos el caso de un paciente con enfermedad de Rosai Dorfman intraparotídeo, ubicación de la cual no hemos encontrado descripción en la literatura mundial