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Bullous systemic lupus erythematosus (BSLE) is an autoimmune subepidermal blistering disease se condary to the presence of autoantibodies against type VII collagen of the basement membrane zone. It is considered a variant of Systemic Lupus Erythematosus (SLE) and is uncommon in the pediatric population.To describe the case of a pediatric patient with a bullous eruption compati ble with BSLE.A 16-year-old female patient of Mapuche descent with history of SLE diagnosed at age 10, undergoing treatment. She consulted due to a six-week history of a generalized bullous eruption with no systemic symptoms. Biopsy for histology and direct immunofluorescence (DIF) confirmed the diagnosis of BSLE. The patient responded favorably to dapsone 100 mg/day (associated with her baseline treatment), without new reactivations after 8 years of follow-up. Con clusion: BSLE is an infrequent manifestation of SLE. The clinical presentation is similar to other bullous dermatoses, but the histopathology and DIF in correlation with the presence of SLE confirm the diagnosis. Although indigenous ancestry is associated with SLE high-risk alleles, studies regarding the association of BSLE in this ethnic group are still lacking.

El lupus eritematoso sistémico buloso (LESB) es una enfermedad ampollar subepidérmica autoinmune secundaria a la presencia de autoanticuerpos contra el colágeno VII de la membrana basal. Es considerada una variante de lupus eritematoso sistémico (LES), siendo infrecuente en la población pediátrica.Objetivo: Describir caso de paciente pediátrica con erupción ampollar compatible con LESB.Caso Clínico: Paciente de sexo femenino de 16 años de ascendencia mapuche, con antecedentes de LES diagnosticado a los 10 años de edad, en tratamiento. Consultó por erupción vesiculobulosa generalizada de 6 semanas de evolución, sin sintomatología sistémica. Se realizó biopsia para estudio histológico e inmunofluorescencia directa (IFD), confirmándose el diagnóstico de LESB. La paciente respondió favorablemente al tratamiento con dapsona en dosis de 100 mg/día (asociado a su tratamiento de base), sin nuevas reactivaciones a 8 años de seguimiento.Conclusión: El LESB es una manifestación infrecuente de LES. Aunque la clínica es similar a la de otras dermatosis ampollares, la correlación entre la presencia de LES, los hallazgos histopatológicos y de IFD permiten confirmar el diagnóstico. Si bien se ha reportado mayor riesgo de LES en población de ascendencia indígena, faltan estudios respecto a la asociación de LESB en esta etnia.

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Ozone exposure could increase lung damage induced by airborne particulate matter. Particulate matter lung toxicity has been attributed to its metallic content.To evaluate the acute effect of intratracheal administration of copper sulfate (CuSO4) on rat lungs previously damaged by a chronic intermittent ozone exposure.Two-months-old male Sprague-Dawley rats were exposed to 0.5 ppm ozone four h per day, five days a week, during two months. CuSO4 was intratracheally instilled 20 h after ozone exposure. Controls breathed filtered air or were instilled with 0.9% NaCl or with CuSO4 or were only exposed to ozone. We evaluated lung histopathology. F2 isoprostanes were determined in plasma. Cell count, total proteins, γ glutamyl-transpeptidase (GGT) and alkaline phosphatases (AP) were determined in bronchoalveolar lavage fluid (BALF).Ozone increased total cell count, macrophages, proteins and AP in BALF (p0.05), and induced pulmonary neutrophil inflammation. CuSO4 plus air increased plasma F2 isoprostane levels and total cell count, neutrophils and proteins in BALF (p0.05). Histopathology showed foamy macrophages. Ozone plus CuSO4 exposed animals showed a neutrophil inflammatory lung response and an increase in total cell count, proteins, GGT and AP in BALF (p0.05). Foamy and pigmented alveolar macrophages were detected in all lungs of these animals (p0.001).Intratracheal instillation of a single dose of CuSO4 in rats previously subjected to a chronic and intermittent exposure to ozone induces a neutrophil pulmonary inflammatory response and cytoplasmic damage in macrophages.

EFFECT OF COPPER SULPHATE ON THE LUNG DAMAGE INDUCED BY CHRONIC INTERMITTENT EXPOSURE TO OZONE Background: Ozone exposure could increase lung damage induced by airborne particulate matter. Particulate matter lung toxicity has been attributed to its metallic content. Aim: To evaluate the acute effect of intratracheal administration of copper sulfate (CuSO4) on rat lungs previously damaged by a chronic intermittent ozone exposure. Material and Methods: Two months-old male Sprague-Dawley rats were exposed to 0.5 ppm ozone four h per day, five days a week, during two months. CuSO4 was intratracheally instilled 20 h after ozone exposure. Controls breathed filtered air or were instilled with 0.9% NaCl or with CuSO4 or were only exposed to ozone. We evaluated lung histopathology. F2 isoprostanes were determined in plasma. Cell count, total proteins, ? glutamyl-transpeptidase (GGT) and alkaline phosphatases (AP) were determined in bronchoalveolar lavage fluid (BALF). Results: Ozone increased total cell count, macrophages, proteins and AP in BALF (p

Antecedentes: El carcinoma espinocelular (CEC) es una neoplasia epitelial maligna. La mayor parte se concentra en 4 áreas: cáncer de piel no melanoma, de cabeza y cuello, esofágico y pulmonar. El riesgo de metástasis de CEC es de 0,3-3,7%. El CEC vulvar representa aproximadamente un 3-5% de los cánceres ginecológicos. Caso clínico: Mujer de 86 años con prurito genital de larga data. Evaluada en varias oportunidades, siendo tratada como Herpes genital con valaciclovir, y Liquen Escleroso y Atrófico (LEA) con corticoides tópicos y tacrolimus con mala respuesta. Consultó por intenso prurito y nuevas lesiones vulvares. Al examen físico, destacaban 2 nódulos ulcerados en región periclitorídea izquierda e introito. La biopsia confirmó CEC bien diferenciado infiltrante. El TAC de abdomen y pelvis descartó metástasis. Se realizó radioterapia por 7 semanas. Por persistencia de la lesión, ingresó a cuidados paliativos. Dos años después la paciente está en buenas condiciones. Discusión: El CEC representa el 95% de las neoplasias vulvares. Existen 2 tipos: CEC en mujeres jóvenes, asociado a infección por virus papiloma humano de alto riesgo y CEC en mujeres mayores en relación a LEA. El 45-61% de los CEC de vulva se asocian a LEA preexistente, por lo que se recomienda el seguimiento de pacientes portadoras de LEA cada 6 meses. Conclusión: Es importante realizar biopsias de lesiones vulvares con mala respuesta a tratamiento, sobre todo si se asocia a LEA.

Introducción: En la literatura está documentado que diferentes mamíferos tienen la capacidad de crecimiento compensatorio post resección pulmonar parcial. Objetivo: Crear un modelo quirúrgico de lobectomía en ratas, factible de desarrollar en nuestro medio, exponiendo algunas originalidades en relación a procedimientos de ventilación pulmonar, comunicando los resultados de la densidad alveolar obtenidos. Animales y Métodos: Se utilizaron 47 ratas Rattus norvegicus. Se aplicó como anestesia Atropina, Quetamina y Xilacina. Para el manejo de la vía aérea se diseñó: 1. Un sistema de ventilación con máscara facial tipo ambú evitando así la intubación traqueal. 2. Un protocolo de evaluación anestésica. 3. Un halo para oxigenar. 4. Se modificó un estetoscopio para realizar auscultación animal. Se practicó una lobectomía pulmonar derecha. Los sujetos fueron separados en Grupo Control (n = 7) y Grupo Experimental (n = 40), estos últimos, separados en cuatro grupos (n = 10, cada grupo), que fueron sacrificados en las semana 1, 2, 3 y 4. Resultados: Se logró 100% de sobrevida. El número de intersecciones alveolares mostró diferencias significativas entre el grupo control y el grupo experimental sacrificado en la semana 3 (p = 0,0016), con un menor número de alvéolos en el grupo experimental. Conclusión: Es factible realizar un modelo de cirugía pulmonar en ratas, con obtención de un 100% de sobrevida. Esto se logra por adecuaciones en el manejo pre e intra-operatorio. No se pudo demostrar que exista aumento significativo en el número de alvéolos, posiblemente por el bajo número de casos realizados.

Background: Human T-lymphotropic virus-1 (HTLV-1) infection has been associated with the pathogenesis of cutaneous T cell lymphomas (CTCL). Aim: To search for HTLV-1 DNA in skin biopsies of patients with CTCL. Material and Methods: A retrospective study was conducted using 25 biopsies of patients with CTCL. DNA was extracted from lymphoid tissue by microdissection. A nested PCR was conducted to detect HTLV-1 genome using primers for the tax region. As negative controls, four cases of superficial perivascular dermatitis were chosen. As positive controls, five cases of T-cell leukemia/lymphoma (ATCL) were studied. Results: A positive reaction was found in 3 of 25 cases. These biopsies corresponded to a case of Mycosis Fungoides, a case of CD30 (-) T-cell lymphoma and a case of lymphomatoid papulosis. Search was negative in the four cases of superficial perivascular dermatitis and positive in four cases of adult T-cell leukemia/lymphoma (ATCL). Conclusions: HTLV-1 DNA search in tissues is a useful tool recommended to study T-cell lymphomas. HTLV-1 infection only occurs in sporadic cases but may contribute to tumor aggressiveness and prognosis.

Generalized woolly hair: case report Introduction: Woolly hair (WH) is a rare abnormality of the hair shaft that can be localized or generalized and may be associated with cutaneous or extracutaneous abnormalities. Objective: To analyze a rare clinical case and emphasize the importance of physical examination. Case report: A three year old child with fine, light, short and curly hair is reported. Regarding family history, his mother reports alopecia since childhood and decreased growth rate of the hair of the scalp. The clinical picture is compatible with generalized hereditary woolly hair without associated anomalies. Conclusions: Woolly hair is a rare abnormality of the structure of the scalp hair. Electron microscopy allows the definitive diagnosis, however the use of dermoscopy is a prac-tical and effective diagnostic tool in everyday practice.(Key words: Woolly hair, scanning electron microscopy, cardiac abnormalities).Rev Chil Pediatr 2013; 84 (6): 667-671RESUMENIntroduccion: El pelo lanoso (PL) es una rara alteracion del tallo piloso que puede ser localizada o generali-zada y puede asociarse a alteraciones cutaneas o extracutaneas. Objetivo: Analizar un cuadro clinico de muy escasa frecuencia y enfatizar la importancia del examen fisico en el enfrentamiento de esta. Caso clinico: Preescolar de tres anos de edad con pelo fino, claro, corto y rizado. En los antecedentes familiares, destacaba la madre con historia de alopecia desde la infancia y disminucion de la velocidad de crecimiento del pelo del cuero cabelludo; cuadro compatible con pelo lanoso generalizado forma hereditaria, sin anomalias asociadas. Conclusiones: El pelo lanoso es una rara anormalidad del tallo piloso. El diagnostico de certeza se obtiene mediante la microscopia electronica, sin embargo, el uso de la dermatoscopia constituye una buena herra-mienta diagnostica en la practica diaria. Puede asociarse a anomalias cutaneas y extracutaneas, por lo cual el enfrentamiento clinico y estudio complementario es primordial para descartar anomalias asociadas.(Palabras clave: Pelo lanoso, microscopia electronica de barrido, anomalias cardiacas).Rev Chil Pediatr 2013; 84 (6): 667-671

El síndrome de Cushing secundario a tumor suprarrenal es una patología infrecuente en el embarazo. Su presencia se traduce en un aumento significativo de la morbimortalidad materna y fetal. Muchas de sus características clínicas son enmascaradas por los cambios propios de una gestación fisiológica, lo que dificulta el diagnóstico. En este contexto las manifestaciones dermatológicas pueden ser de gran utilidad en la sospecha clínica precoz. Se presenta el caso de una paciente de 26 años de edad que en el segundo trimestre de embarazo inicia un cuadro caracterizado por acné inflamatorio severo e hirsutismo. La gestación se interrumpe a las 35 semanas por síndrome hipertensivo del embarazo y rotura prematura de membranas. Durante el puerperio consulta al dermatólogo presentando aún las lesiones descritas, además de estrías violáceas gruesas en abdomen, facie de luna, obesidad centrípeta y máculas purpúricas en zonas de presión. Se diagnóstica síndrome de Cushing. El estudio confirmatorio y etiológico dirigido evidenció un adenoma de corteza suparrenal. El diagnóstico de laboratorio es difícil debido a los cambios físicos y de laboratorio habituales del embarazo que pueden mimetizar los hallazgos propios de la enfermedad. Los hallazgos dermatológicos pueden ser de gran valor para un diagnóstico y tratamiento precoz. Las lesiones dermatológicas secundarias al hipercortisolismo fueron de difícil manejo.

Background: Systemic amyloidosis is a rare disease that can affect any organ. Its clinical manifestations are varied and nonspecific. The skin involvement of this disease is common and can be easily recognized on physical examination. We report a 57-year-old male presenting with a two years history of malaise, dyspnea and myalgias. On physical examination, ungueal dystrophy, orange pigmentation of eyelids with periocular petechiae and mild macroglossia were observed. Incisional biopsies of the eyelids, cheeks and hands were obtained. The pathological study demonstrated amyloid deposits. Since protein electrophoresis was normal, the diagnosis of AA amyloidosis was postulated.

Sweet's syndrome, also known as acute febrile neutrophilic dermatosis, is characterized by fever, neutrophilia, erythematous and tender skin lesions that typically show a diffuse infiltrate of neutrophils in the upper dermis. This disorder has been associated with myeloproliferative syndromes. We report the case of a 53-year-old woman with an acute myeloid leukemia, presenting a Sweet's syndrome. A worsening of cutaneous lesions injuries was observed when granulocyte colony stimulating factor was added to treatment.

Bronchiolar disorders are generally difficult to diagnose. A detailed clinical history may point toward a specific diagnosis. Pertinent clinical questions include history of smoking, collagen vascular disease, inhalation injury, medication use and organ transplantation. It is important also to evaluate possible systemic and pulmonary signs of infection, evidence of air trapping, and high-pitched expiratory wheezing, which may suggest small airways involvement. Pulmonary function tests and plain chest radiography may demonstrate abnormalities; however, they rarely prove sufficiently specific to obviate bronchoscopic or surgical biopsy. High-resolution CT (HRCT) scanning of the chest is often an important diagnostic tool to guide diagnosis in these difficult cases, because different subtypes of bronchiolar disorders may present with characteristic image findings. Some histopathologic patterns of bronchiolar disease may be relatively unique to a specific clinical context but others are nonspecific with respect to either etiology or pathogenesis. Primary bronchiolar disorders include acute bronchiolitis, respiratory bronchiolitis, follicular bronchiolitis, mineral dust airway disease, constrictive bronchiolitis, diffuse panbronchiolitis, and other rare variants. Prominent bronchiolar involvement may be seen in several interstitial lung diseases, including hypersensitivity pneumonitis, collagen vascular disease, respiratory bronchiolitis-associated interstitial lung disease, cryptogenic organizing pneumonia, and pulmonary Langerhans’ cell histiocytosis. Large airway diseases that commonly involve bronchioles include bronchiectasis, asthma, and chronic obstructive pulmonary disease. The clinical and prognostic significance of a bronchiolar lesion is best determined by identifying the etiology, underlying histopathologic pattern and assessing the correlative clinic-physiologic-radiologic context.

Cutaneous tuberculosis is a chronic infectious disease caused by Mycobacterium tuberculosis. It is uncommon (1% of all cases of tuberculosis), but has increased due to the human immunodeficiency virus epidemic and to pharmacologic immunosuppression. It presents a wide variety of clinical forms depending on how bacteria reach the skin and on the immune status of the patient. We present two cases of cutaneous tuberculosis diagnosed in the Hospital Clinico de la Pontificia Universidad Catolica de Chile. We emphasize the difficulty in diagnosis and classification of this disease and briefly discuss on the different diagnostic and therapeutic approaches.

Neurofibromatosis is a hereditary autosomal-dominant disease with high rates of de novo mutations, and carries a high risk of neoplasms. It affects both sexes and all races and ethnic groups. It is characterized by multiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52-year-old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. On physical examination, the patient was jaundiced and had "cafe au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullar carcinoma. The patient was operated, during the exploration she presented a periampullary tumor and multiple small nodular lesions in the stomach, the tumor was resected with a pancreaticoduodenectomy and the nodular gastric lesions were biopsied. The pathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study of the stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good condition.

Skin necrosis must be considered as a syndrome, because it is a clinical manifestation of different diseases. An early diagnosis is very important to choose the appropriate treatment. Therefore, its causes should be suspected and confirmed quickly. We report eleven patients with skin necrosis seen at our Department, caused by different etiologies: Warfarin-induced skin necrosis, loxoscelism, diabetic microangiopathy, ecthyma gangrenosum, disseminated intravascular coagulation, necrotizing vasculitis, paraneoplastic extensive necrotizing vasculitis, livedoid vasculopathy, necrotizing fasciitis, necrosis secondary to the use of vasoactive drugs and necrosis secondary to the use of cocaine. We also report the results of our literature review on the subject.

Human T-lymphotropic virus-1 (HTLV-1) infection has been associated with the pathogenesis of cutaneous T cell lymphomas (CTCL).To search for HTLV-1 DNA in skin biopsies of patients with CTCL.A retrospective study was conducted using 25 biopsies of patients with CTCL. DNA was extracted from lymphoid tissue by microdissection. A nested PCR was conducted to detect HTLV-1 genome using primers for the tax region. As negative controls, four cases of superficial perivascular dermatitis were chosen. As positive controls, five cases of T-cell leukemia/lymphoma (ATCL) were studied.A positive reaction was found in 3 of 25 cases. These biopsies corresponded to a case of Mycosis Fungoides, a case of CD30 (-) T-cell lymphoma and a case of lymphomatoid papulosis. Search was negative in the four cases of superficial perivascular dermatitis and positive in four cases of adult T-cell leukemia/lymphoma (ATCL).HTLV-1 DNA search in tissues is a useful tool recommended to study T-cell lymphomas. HTLV-1 infection only occurs in sporadic cases but may contribute to tumor aggressiveness and prognosis.

Herpes folliculitis is a rare manifestation of herpes virus infection. It usually represents a diagnostic challenge, due to the absence of characteristic skin manifestations such as vesicles or pustules. The reported cases are mainly associated with varicella zoster virus (VZV) and less commonly with herpes simplex viruses (HSV-1 y HSV-2). We report a 51-year-old male with a relapsing non-Hodgkin Lymphoma under chemotherapy, with history of extensive follicular lesions lasting one month. The pathologic study of the lesions was consistent with necrotizing herpes folliculitis. The patient was treated with Valacyclovir, achieving remission of the lesions. The appearance of folliculitis, especially in an immunocompromised patient, should raise the suspicion of herpes virus infection. Polymerase chain reaction may help to elucidate the diagnosis when pathologic findings are non-specific.

Sweet's syndrome, also known as acute febrile neutrophilic dermatosis, is characterized by fever, neutrophilia, erythematous and tender skin lesions that typically show a diffuse infiltrate of neutrophils in the upper dermis. This disorder has been associated with myeloproliferative syndromes. We report the case of a 53-year-old woman with an acute myeloid leukemia, presenting a Sweet's syndrome. A worsening of cutaneous lesions injuries was observed when granulocyte colony stimulating factor was added to treatment.

Bronchiolar disorders are generally difficult to diagnose. A detailed clinical history may point toward a specific diagnosis. Pertinent clinical questions include history of smoking, collagen vascular disease, inhalation injury, medication use and organ transplantation. It is important also to evaluate possible systemic and pulmonary signs of infection, evidence of air trapping, and high-pitched expiratory wheezing, which may suggest small airways involvement. Pulmonary function tests and plain chest radiography may demonstrate abnormalities; however, they rarely prove sufficiently specific to obviate bronchoscopic or surgical biopsy. High-resolution CT (HRCT) scanning of the chest is often an important diagnostic tool to guide diagnosis in these difficult cases, because different subtypes of bronchiolar disorders may present with characteristic image findings. Some histopathologic patterns of bronchiolar disease may be relatively unique to a specific clinical context but others are nonspecific with respect to either etiology or pathogenesis. Primary bronchiolar disorders include acute bronchiolitis, respiratory bronchiolitis, follicular bronchiolitis, mineral dust airway disease, constrictive bronchiolitis, diffuse panbronchiolitis, and other rare variants. Prominent bronchiolar involvement may be seen in several interstitial lung diseases, including hypersensitivity pneumonitis, collagen vascular disease, respiratory bronchiolitis-associated interstitial lung disease, cryptogenic organizing pneumonia, and pulmonary Langerhans' cell histiocytosis. Large airway diseases that commonly involve bronchioles include bronchiectasis, asthma, and chronic obstructive pulmonary disease. The clinical and prognostic significance of a bronchiolar lesion is best determined by identifying the etiology, underlying histopathologic pattern and assessing the correlative clinic-physiologic-radiologic context.

La embarazada es susceptible a cambios en la piel y fanereos que pueden ser fisiologicos como patologicos. El reconocimiento de estas entidades es fundamental para un correcto manejo. La clasificacion y nomenclatura de las dermatosis del embarazo ha sido controversial y confusa, principalmente dado el pobre conocimiento que se tiene sobre el origen de estas entidades. El objetivo de esta revision es informar sobre el conocimiento actual del penfigoide gestacional a partir de un caso clinico, centrandose en su diagnostico y tratamiento como patologia multidiscilpinaria.

La exposicion intermitente de ratas centinela a la contaminacion del trafico vehicular de Santiago se ha asociado a disminucion del crecimiento corporal despues de cien dias de exposicion (rango: 101-111) y a dano histopatologico del pulmon a los 90 dias y mas, especialmente a los 180 dias de exposicion. Nuestro objetivo fue evaluar si la exposicion al aire de una avenida con elevado trafico vehicular durante 90 dias era capaz de inducir en la rata una respuesta inflamatoria sistemica. Ratas Sprague-Dawley de 30 dias de edad (n = 7) fueron directamente expuestas a respirar el aire de una avenida con elevado flujo vehicular (8 h, 5 dias por semana, desde el 27 de abril hasta el 29 de julio de 2009). Las ratas control (n = 7) respiraron aire del bioterio. Las ratas se pesaron dos veces por semana y despues de completar 90 dias de observacion, los pulmones se destinaron a estudio histopatologico. Se realizo microhematocrito y se determino proteina C reactiva, viscosidad y F2-isoprostano plasmaticos en muestras de sangre. La exposicion a PM10, PM2,5, ozono, NO2 y CO se calculo de los registros de cuatro estaciones de monitoreo de Santiago. Despues de 90 dias de exposicion se observo un aumento significativo (p < 0,05) de la proteina C reactiva y de la viscosidad plasmatica y tambien del microhematocrito, en relacion a la serie control. No se observaron cambios significativos en F2-isoprostano plasmatico, ni en la histopatologia pulmonar, ni en la curva de peso corporal versus tiempo al comparar la serie expuesta con la serie control. El promedio horario de PM2,5 en las 8 horas de exposicion fue alto: 38,9 µg/m3. Concluimos que 90 dias de exposicion intermitente a la contaminacion aerea de Santiago en el modelo experimental promueve una reaccion inflamatoria sistemica. Esta respuesta a la contaminacion aerea podria preceder a la disminucion del crecimiento corporal y al dano histologico pulmonar encontrado en otro de nuestros estudios en esta misma especie despues de la exposicion intermitente a la contaminacion aerea de Santiago.

Cutaneous tuberculosis is a chronic infectious disease caused by Mycobacterium tuberculosis. It is uncommon (1% of all cases of tuberculosis), but has increased due to the human immunodeficiency virus epidemic and to pharmacologic immunosuppression. It presents a wide variety of clinical forms depending on how bacteria reach the skin and on the immune status of the patient. We present two cases of cutaneous tuberculosis diagnosed in the Hospital Clínico de la Pontificia Universidad Católica de Chile. We emphasize the difficulty in diagnosis and classification of this disease and briefly discuss on the different diagnostic and therapeutic approaches.

Pilomatrixoma is a rare, benign neoplasm that is derived from hair matrix cells. It is more frequent during childhood, especially between the ages of 5 and 15 years. Pilomatrixoma is usually a hard, well circumscribed, solitary lesion, and can be located on any part of the body, except palms and soles, with a predilection for maxillofacial region. Multiple pilomatrixomas are rare and they have been associated with various systemic syndromes, of which myotonic dystrophy has been the most described. The diagnosis of pilomatrixoma is fundamentally clinical. Complementary studies such as ultrasound can be useful to confirm the diagnosis. Excisional surgery is the standard curative treatment. We present a 17-year-old female patient with an extremely uncommon clinical presentation of pilomatrixoma: multiple lesions, anetodermic, and rapid growth.

Systemic amyloidosis is a rare disease that can affect any organ. Its clinical manifestations are varied and nonspecific. The skin involvement of this disease is common and can be easily recognized on physical examination. We report a 57-year-old male presenting with a two years history of malaise, dyspnea and myalgias. On physical examination, ungueal dystrophy, orange pigmentation of eyelids with periocular petechiae and mild macroglossia were observed. Incisional biopsies of the eyelids, cheeks and hands were obtained. The pathological study demonstrated amyloid deposits. Since protein electrophoresis was normal, the diagnosis of AA amyloidosis was postulated.

Neurofibromatosis is a hereditary autosomal-dominant disease with high rates of de novo mutations, and carries a high risk of neoplasms. It affects both sexes and all races and ethnic groups. It is characterized by multiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52-year-old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. On physical examination, the patient was jaundiced and had "café au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullar carcinoma. The patient was operated, during the exploration she presented a periampullary tumor and multiple small nodular lesions in the stomach, the tumor was resected with a pancreaticoduodenectomy and the nodular gastric lesions were biopsied. The pathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study of the stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good condition.

La disquinesia ciliar primaria (DCP) corresponde a una enfermedad genetica heterogenea, que se produce por una alteracion estructural o funcional de los cilios. Es de dificil diagnostico tanto por su variada sintomatologia como por la existencia de metodos de screening y diagnostico complejos. El metodo que hasta ahora ha sido considerado como gold standard es el analisis de la estructura ciliar por medio de la microscopia electronica de transmision (MET). Esta tecnica tiene limitaciones porque permite analizar un numero limitado de axonemas ciliares y puede excluir del diagnostico a pacientes con axonema normal pero con alteracion funcional y clinica clasicas. En los ultimos anos se han desarrollado metodos diagnosticos sobre la base de un mejor conocimiento de la estructura proteica de los cilios, de los genes que codifican estas proteinas y de las mutaciones asociadas a DCP. Estos nuevos metodos consisten en un analisis genetico y un estudio de la expresion de proteinas ciliares en los pacientes afectados. Esta publicacion tiene como objetivo realizar una revision de la fisiopatologia de la DCP, los metodos diagnosticos actuales y resumir el desarrollo del diagnostico genetico en la literatura internacional y su posible aplicacion en nuestro medio.

Acquired reactive perforating collagenosis is a perforating dermatosis characterized by transepidermal elimination of collagen. It is frequently associated to diabetes mellitus and chronic renal insufficiency, but it is also related to other systemic diseases. The lesions tend to resolve once the underlying condition is treated. We report two patients with the condition. A 65 year-old diabetic female on hemodialysis consulted for multiple itching cutaneous ulcers lasting one year. On physical examination, hyperpigmented papules and nodules were observed. A 65 year-old female with chronic renal failure in hemodialysis consulted for itching lesions in hands, forearms and arms. On physical examination, hyperpigmented lesions with ulcers, erosions and crusts were observed. In both cases, the pathological study of the lesions disclosed a reactive perforating collagenosis.

Acquired reactive perforating collagenosis is a perforating dermatosis characterized by transepidermal elimination of collagen. It is frequently associated to diabetes mellitus and chronic renal insufficiency, but it is also related to other systemic diseases. The lesions tend to resolve once the underlying condition is treated. We report two patients with the condition. A 65 year-old diabetic female on hemodialysis consulted for multiple itching cutaneous ulcers lasting one year. On physical examination, hyperpigmented papules and nodules were observed. A 65 year-old female with chronic renal failure in hemodialysis consulted for itching lesions in hands, forearms and arms. On physical examination, hyperpigmented lesions with ulcers, erosions and crusts were observed. In both cases, the pathological study of the lesions disclosed a reactive perforating collagenosis.

El carcinoma basoescamoso es una neoplasia cutánea relativamente rara que reúne características de carcinoma basocelular y espinocelular. Actualmente la mayoría de los dermatólogos reconocen que este es un subtipo del carcinoma basocelular con comportamiento muchísimo más agresivo. Su presentación clínica es inespecífica y en general su diagnóstico se realiza sólo después de la biopsia. Predomina en pacientes de sexo masculino durante la séptima década de la vida y tiende a aparecer en regiones fotoexpuestas. Muchos autores igualan su comportamiento al del carcinoma espinocelular. Se presenta el caso de un paciente, de sexo masculino, de 44 años de edad, con antecedente de exposición a arsénico medioambiental crónica, que presentó aumento de volumen, duro en la región inguinal izquierda, cuya biopsia fue compatible con carcinoma basoescamoso con compromiso linfático. El caso de nuestro paciente muestra una presentación atípica por su localización y por la aparición 20 años antes de la media de edad reportada en la literatura. Esto podría ser explicado por la exposición crónica a arsénico, conocido factor de riesgo para carcinogénesis cutánea.

We report a 66 year-old woman with a history of pulmonary sarcoidosis, diagnosed with a lung biopsy in 1993 and treated with prednisone for 2 years. She presented at our institution in 1999 with a stage IV disease and important functional and clinical impairment. A bronchial biopsy disclosed non caseating granulomas. Tuberculosis was intensively studied and persistently negative. Due to frequent nausea and vomiting an endoscopic gastric biopsy was performed which revealed non caseating granulomas involving the gastric mucosa. There was no evidence of Helicobacter pylori and stains for fungi and acid-fast bacilli were negative. Treatment with prednisone relieved digestive symptoms, although a control biopsy of the gastric mucosa revealed persistence of non caseating granulomas. Both lung stage IV and gastric sarcoidosis are uncommon forms of the disease.

We report a 66 year-old woman with a history of pulmonary sarcoidosis, diagnosed with a lung biopsy in 1993 and treated with prednisone for 2 years. She presented at our institution in 1999 with a stage IV disease and important functional and clinical impairment. A bronchial biopsy disclosed non caseating granulomas. Tuberculosis was intensively studied and persistently negative. Due to frequent nausea and vomiting an endoscopic gastric biopsy was performed which revealed non caseating granulomas involving the gastric mucosa. There was no evidence of Helicobacter pylori and stains for fungi and acid-fast bacilli were negative. Treatment with prednisone relieved digestive symptoms, although a control biopsy of the gastric mucosa revealed persistence of non caseating granulomas. Both lung stage IV and gastric sarcoidosis are uncommon forms of the disease.

Skin biopsy is a powerful diagnostic tool in dermatology. Its use has been extended to other medical specialties, allowing the diagnosis of several diseases that previously required complex and high risk diagnostic procedures. Skin contains numerous cell types, including blood vessels and peripheral nerves and represents a window to the systemic circulation and nervous system. In this review we discuss the use of skin biopsy to diagnose nervous system diseases in which patients do not exhibit any clinical cutaneous manifestations. We review the usefulness of skin biopsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), some lysosomal storage diseases, Lafora disease and in peripheral neuropathies.

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam of ataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differential diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electron microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.

The present article commemorates the fifth anniversary of thedeath of Professor Benedicto Chuaqui Jahiatt, a prominent Chilean pathologist at the School ofMedicine of the Pontificia Universidad Catolica de Chile. Professor Chuaqui was well known forhis teaching skills, his scientific work with international projections and his humanistic visionof medicine. His publications reflect, his wide spectrum and integrative vision of differentdisciplines of both natural sciences and linguistics (Rev Med Chile 2008; 136: 1343-7).(

Skin biopsy is a powerful diagnostic tool in dermatology. Its use has been extended to other medical specialties, allowing the diagnosis of several diseases that previously required complex and high risk diagnostic procedures. Skin contains numerous cell types, including blood vessels and peripheral nerves and represents a window to the systemic circulation and nervous system. In this review we discuss the use of skin biopsy to diagnose nervous system diseases in which patients do not exhibit any clinical cutaneous manifestations. We review the usefulness of skin biopsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), some lysosomal storage diseases, Lafora disease and in peripheral neuropathies.

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IVmust be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population

la enfermedad pulmonar difusa asociada al consumo de tabaco no ha sido claramente definida, la bronquiolitis respiratoria (RB) es un hallazgo morfologico frecuente en fumadores asintomaticos, se caracteriza por la acumulacion de macrofagos pigmentados en los bronquiolos respiratorios. Solo una pequena proporcion de los sujetos fumadores presenta una respuesta inflamatoria exagerada que compromete el intersticio y espacio alveolar, lo cual corresponde a la bronquiolitis respiratoria asociada a enfermedad pulmonar difusa (RBIID), que se manifiesta por disnea de esfuerzos y tos. la neumonia intersticial descamativa (DIP) se caracteriza por compromiso panlobular, fibrosis intersticial discreta e infiltracion masiva del espacio aereo por macrofagos. El patron histopatologico de RBIID y DIP se pueden sobreponer, siendo los principales elementos diferenciadores entre ambas entidades, la distribucion y extension de las lesiones: compromiso bronquiolo-centrico en RBIID y difuso en DIP. Se ha planteado que la RB, RBIID y DIP pueden constituir diferentes fases de una misma enfermedad asociada al consumo de tabaco, lo cual aun es motivo de controversia. Con el proposito de ilustrar este problema, se presenta el caso clinico de un paciente fumador que consulto por disnea progresiva, tos e infiltrados pulmonares bilaterales sugerentes de enfermedad pulmonar difusa asociada al tabaquismo.

Leprosy is a granulomatous disease affecting the skin and peripheral nerves caused by Mycobacterium leprae. The range of clinical forms varying from tuberculoid to lepromatous leprosy results from variations in the cellular immune response to the mycobacterium. Despite available combined drug-therapy, it continues to be a significant public health problem, carrying a strong stigma. Although recently there has been no native cases in Chile, a few imported cases have been diagnosed. We present a 56-year-old man who had lived in Paraguay for 8 years, and presented with leprosy 6 years after returning to Chile. The biology of leprosy, clinical features of the disease, current diagnostic criteria and approaches to treatment are discussed.

La lepra es una enfermedad granulomatosa causada por Mycobacterium leprae, que afecta la piel y los nervios. Su espectro clínico comprende desde lepra tuberculoidea hasta la lepromatosa, siendo el resultado de las variaciones de la respuesta inmune celular a la micobacteria. A pesar de la terapia combinada, la enfermedad sigue siendo un problema de salud pública significativo y se asocia a una fuerte estigmatización. Aunque no ha habido casos autóctonos en Chile, algunos casos contraídos en el extranjero han sido diagnosticados. Se presenta un hombre de 56 años, que vivió en Paraguay durante ocho años y debutó con lepra después de seis años viviendo en Chile. Se discute la biología de la lepra, las características clínicas de la enfermedad, los criterios diagnósticos actuales y el enfoque terapéutico

Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways.To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients.Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done.In 30 patients (90%) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66%) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57%), and during its use, 12 (68%) remained without othorrea. Sixteen patients (48%) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21%) required a functional endoscopic sinus surgery (FESS), and 6 (86%) improved after FESS.Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otológica! and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.

Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To describe clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done. Results: In 30 patients (90%) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66%) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57%), and during its use, 12 (68%) remained without othorrea. Sixteen patients (48%) with recurrent episodes of rhinosinusitis required adenoidectomy. Seven (21%) required a functional endoscopic sinus surgery (FESS), and 6 (86%) improved after FESS. Conclusions: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otological and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD (Rev Med Chile 2007; 135: 1147-52). (Key words: Ciliary motility disorders; Otitis; Rhinitis; Sinusitis)

Las amebas de vida libre (AVL) de los géneros Naegleria y Acanthamoeba son reconocidos agentes causales de infecciones del sistema nervioso central. Durante los últimos años, otra ameba de vida libre, Balamuthia mandrillaris, ha sido identificada como agente etiológico de meningoencefalitis granulomatosa amebiana (MGA) en humanos. Presentamos el caso de una escolar de sexo femenino, inmunocompetente en quien se realizó el diagnóstico post mortem de MGA por este agente. Consultó por aparición de lesiones eritematosas e induradas que comprometían la zona centro-facial. En biopsia cutánea se evidenció una lesión granulomatosa con RPC positiva para secuencias génicas de Mycobacterium atípico, por lo que se inició tratamiento para micobacteriosis atípica extrapulmonar. Evolucionó con compromiso neurológico progresivo, falleciendo aproximadamente un año después de iniciar los síntomas. La necropsia reveló una MGA, cuyo estudio posterior demostró la presencia de B. mandrillaris. La infección por B. mandrillaris debe ser considerada en el diagnóstico diferencial de una enfermedad granulomatosa crónica que evoluciona con compromiso neurológico

The free-living amebas Naegleria and Acanthamoeba are recognized as causal agents of central nervous system infections. Recently a third free-living ameba, Balamuthia mandrillaris, was identified as the causal agent of granulomatous encephalitis in humans. We report a case of Balamuthia encephalitis in an immunocompetent school-age girl who presented cutaneous lesions that compromised the central portion of the face. The skin biopsy revealed granulomatous lesion with positive PCR for non-tuberculous Mycobacterium. We started treatment for atypical extrapulmonary mycobacteriosis. Nevertheless, the child was readmitted six months later, with progressive neurological involvement, dying about one year after the onset of cutaneous symptoms. The brain necropsy showed the presence of B. mandrillaris cysts and trophozoites. Balamuthia mandrillaris infection should be considered in the differential diagnosis of a patient with chronic granulomatous disease with neurologic symptoms.

En el presente trabajo de revision se describe la clasificacion actual de las lesiones linfoproliferativas del pulmon propuesta por la OMS el ano 2004 con enfasis en el cuadro clinico y los aspectos histopatologicos. La definicion de estas entidades incluye cuadro clinico, histopatologia, inmunohistoquimica y caracteristicas moleculares. Se discute brevemente el diagnostico diferencial de las formas mas importantes

Interstitial lung diseases are uncommon in children, and can be idiopathic or secondary to known causes, sharing common pathological findings. We report a girl with progressive respiratory insufficiency secondary to interstitial pneumonia and pulmonary fibrosis, with risk factors such as bronchopulmonary dysplasia and respiratory infections (respiratory syncytial virus and suspected Mycoplasma pneumoniae), that may have had an additive effect. Nasal bi-level Positive Airway Pressure was used in the last period of her disease. She died due to global respiratory failure at the age of 14 years.