Papulolinear collagenoma: a rare entity in children.

Papulolinear collagenoma is a rare kind of connective tissue nevus. It is a dermal hamartoma characterized by an increase in collagen. We report a young girl's collagen nevus with a papulolinear distribution.

Multisystemic fusariosis with fulminant evolution

Abstract This report presents the case of a 13-year-old female patient with history of acute myeloid leukemia, who, after a bone marrow transplant, began to vomit and experienced rapidly progressive deterioration of consciousness, in addition to disseminated erythematous-violaceous macules, and some blisters with hemorrhagic content inside. Skin biopsy evidenced intravascular filamentous structures. A blood culture confirmed the presence of Fusarium oxysporum. Intravenous treatment with voriconazole was initiated. The patient evolved unfavorably with multiple necrotic skin lesions, ischemic brain lesions, and death.

Multisystemic fusariosis with fulminant evolution.

This report presents the case of a 13-year-old female patient with history of acute myeloid leukemia, who, after a bone marrow transplant, began to vomit and experienced rapidly progressive deterioration of consciousness, in addition to disseminated erythematous-violaceous macules, and some blisters with hemorrhagic content inside. Skin biopsy evidenced intravascular filamentous structures. A blood culture confirmed the presence of Fusarium oxysporum. Intravenous treatment with voriconazole was initiated. The patient evolved unfavorably with multiple necrotic skin lesions, ischemic brain lesions, and death.

Efficacy and safety of a novel nitric oxide generator for the treatment of neonatal pulmonary hypertension: Experimental and clinical studies.

Persistent pulmonary hypertension of the newborn (PPHN) is a complex pathology resulting from a failure of the post-natal reduction in pulmonary vascular resistance leading to hypoxemia. The standard therapy is inhaled Nitric Oxide (NO) improving oxygenation but its availability is limited, especially in hospitals with restricted financial resources. We evaluated the efficacy and safety of a new device generating NO (TAS + PLUS), in three experimental piglet models of pulmonary hypertension (PH), and we later tested its application in a pilot study of newborn patients suffering from PPHN. Piglets with experimentally induced PH showed a decrease in pulmonary arterial pressure (PAP) after breathing NO. Both acute and chronic exposure of piglets and rats did not cause any adverse effect in blood gas levels and biological parameters. A pilot study including 32 patients suffering from PPHN showed an increase in oxygen saturation (SatO2) and partial pressure of oxygen in arterial blood (PaO2) leading to a decrease of Oxygenation Index (OI) after compassionate treatment with NO from TAS + PLUS device. The device showed effectiveness and safety both in experimental PH and in the clinical setting. Therefore, it represents an excellent alternative for PPHN management in conditions where commercial NO is unavailable.

Bullous pemphigoid: can it occur in pediatric age? / Penfigoide ampolloso: ¿puede ocurrir en la edad pediátrica?

El penfigoide ampollar en niños es extremadamen-te infrecuente. La mayoría de los casos ocurre en adultos mayores, resultando fundamental conside-rar que en medicina todo es posible y esta enferme-dad igualmente podría presentarse en niños, por lo que se debe prestar especial atención a sus manifes-taciones clínicas, realizar los exámenes apropiados para descartar diagnósticos diferenciales y de esta forma, iniciar un tratamiento eficaz en el momen-to preciso. A continuación, presentamos un caso clínico de penfigoide ampollar que ocurrió en un paciente pediátrico atendido en nuestro hospital universitario.

Bullous pemphigoid in children is extremely in-frequent. Most of them predominate in elderly persons, resulting fundamental to consider that in medicine everything could be possible, and this disease could occur in children, so we must pay special attention to its clinical manifestations, to take the appropriate exams to rule out differen-tial diagnoses and in this way perform an effective treatment at the precise moment. Following, we present a clinical case of bullous pemphigoid that occurred in a pediatric patient attended at our university hospital.

Molecular autopsy in a cohort of infants died suddenly at rest.

Sudden infant death syndrome is the leading cause of death during the first year of life. A large part of cases remains without a conclusive cause of death after complete autopsy. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Our aim was to ascertain whether genetic variants associated with sudden cardiac death might be the cause of death in a cohort of infants died suddenly. We analyzed 108 genes associated with sudden cardiac death in 44 post-mortem samples of infants less than 1 year old of age who died at rest. Definite cause of death was not conclusive in any case after a complete autopsy. Genetic analysis identified at least one rare variant in 90.90% of samples. A total of 121 rare genetic variants were identified. Of them, 33.05% were novel and 39.66% were located in genes encoding ion channels or associated proteins. A comprehensive genetic analysis in infants who died suddenly enables the unraveling of potentially causative cardiac variants in 2045% of cases. Molecular autopsy should be included in forensic protocols when no conclusive cause of death is identified. Large part genetic variants remain of uncertain significance, reinforcing the crucial role of genetic interpretation before clinical translation but also in early identification of relatives at risk.

Mortalidad prenatal en el Centro Hospitalario Pereira Rossell, Montevideo. Análisis de 845 casos de autopsia entre 2005 y 2016 / Stillbirth at Pereira Rossell Hospital in Montevideo. Analysis of 845 autopsies between 2005 and 2016

Resumen: Antecedentes: con la mejora de la atención del embarazo se ha reducido el número de mortinatos en el mundo desarrollado. Pero en los países subdesarrollados y en vías de desarrollo constituyen un problema sanitario. Objetivo: conocer las patologías que subyacen en los casos de autopsia de mortinatos del Centro Hospitalario Pereira Rossell, a los efectos de contribuir a la reducción de la mortalidad fetal. Material y método: se realiza un estudio observacional, descriptivo de recolección de información en forma retrospectiva de las autopsias de los de mortinatos del Centro Hospitalario Pereira Rossell de los últimos 12 años (2005-2016). Las autopsias y las placentas fueron realizadas de acuerdo al protocolo habitual en patología perinatal. Los datos del estudio se analizaron conjuntamente. Resultados: se constataron malformaciones congénitas en 17,7% e infección congénita en la autopsia en 20,4%. La infección en conjunto (en autopsia y/o placenta) se identificó en 383 casos (45,3%). Se identificó lúes en 10,5% de los mortinatos. Había elementos fetales de asfixia en 11,5% y una miscelánea de patologías en 3,5% de los casos. En 50,4% la autopsia propiamente dicha no tenía alteraciones, pero en 90% de ellas se identificaron lesiones placentarias que pudieron ser responsables de la muerte fetal. Se observó bajo flujo sanguíneo útero placentario en 14,2% de las placentas, corioamnionitis en 30,5% de las placentas, y hematoma retroplacentario en 26,6% de las placentas. La muerte fue indeterminada en 4,9% de los casos. Conclusiones: un elevado porcentaje de los casos tienen patologías evitables y tratables. Se identificaron patologías potencialmente recurrentes y enfermedades que ameritan tratar a la madre. Los estudios de los mortinatos deben ser considerados en los protocolos sanitarios a los efectos de reducir la mortalidad fetal.

Summary: Background: the number of stillbirth cases has been reduced in the developed countries due to improvements in pregnancy care. It is important to know the causes in order to prevent fetal death. Early identification of risk factors for stillbirth may reduce the number of cases. The objective of this paper is to identify the underlying pathologies of the cases that underwent an autopsy at Pereira Rossell Hospital in Montevideo, in order to contribute to the reduction of fetal mortality. Methods: this is a retrospective and descriptive study of autopsy and placental examinations, performed at the Pediatric Pathology Laboratory of Pereira Rossell Hospital in Montevideo. A standard protocol was applied. Data were analyzed overall. Results: congenital malformations were identified in 17.7% of cases; congenital infection in the fetus was found in 20.4%. Infection altogether (in the autopsy and/or the placenta) was identified in 383 cases (45.3%). Syphilis was diagnosed in 10.5% of the stillborn. Fetal evidence of asphyxia accounted for 11.5% and miscellaneous pathologies 3.5%. In 50.4% of cases the autopsy did not reveal alterations, but 90% of corresponding placentas had lesions that could have caused the death of the fetus. Maternal underperfusion or malperfusion was found in 14.2% of the placentas. Chorioamnionitis was seen in 30.5%. A retroplacental hematoma was seen in 26.6%. Stillbirth was of unexplained in 4.9% of the cases. Conclusion: a high percent of the cases studied had a preventable pathology. Many recurrent lesions were identified as well as cases that required additional medication to the mother. The results of the pathology examination should be considered in order to reduce the stillbirth rate.

Muerte inesperada del lactante: Análisis de 591 casos / Sudden infant death: 591 cases analysis

Antecedentes: la muerte inesperada del lactante (MIL) sin asistencia, ya sea en domicilio o a su arribo al hospital conlleva a un impedimento en la firma del certificado de defunción y al necesario peritaje forense a los efectos de descartar las causas no naturales. Conocer la causa de muerte es de suma importancia no sólo para las autoridades sanitarias sino para los Pediatras a afectos actuar sobre los factores implicados. Objetivos: el objetivo de esta revisión es analizar las patologías encontradas y las circunstancias que rodearon a la muerte en los casos MIL, a los efectos de identificar factores de riesgo. Métodos: se incluyeron en este estudio 591 menores de un año fallecidos en forma súbita e inesperada, en domicilio o a su arribo a un centro asistencial, ingresados al Programa MIL, entre octubre de 1998 y diciembre de 2015, con intervalo libre 2002-2006. No todos los fallecidos en dicho período en iguales circunstancias fueron enviados para su estudio. Se reunió historia clínica, circunstancias de la muerte y la familia fue entrevistada. Los casos fueron analizados por el grupo interdisciplinario. Se clasificó como: Muerte Explicable cuando se encuentra una causa y Muerte Indeterminada cuando no se encuentra una causa. Estas últimas están constituidas por Síndrome de Muerte Súbita del Lactante (SMSL) y las Zonas Grises (ZG). Se agruparon como ZG aquellos casos en los que no había una causa que con certeza explicara la muerte, pero había factores predisponentes que pudieron causarla o favorecerla. Estas ZG fueron distribuidas en 6 categorías. Para clasificar como SMSL el grupo exige la ausencia de colecho, de decúbito prono, de almohada y de otros entornos factibles de causar sofocación. Resultados: se estudiaron 591 casos. Se identificó una causa de muerte en 339 casos (57.4%). En 252 la muerte fue indeterminada (42.6%). Se encontró infección respiratoria en 29% de los casos (50% de las muertes explicables); anomalía cardíaca en 15%; diarrea con deshidratación en 4.5%; sofocación accidental en 3%; se identificó una causa violenta en 1.5%. Hubo variación entre los dos períodos (1998-2001 y 2007-2015). De los casos indeterminados, 242 correspondieron ZG y 10 a SMSL. En 91% de las ZG menores de 4 meses de edad que tienen el dato evaluable, hubo un entorno de sueño inseguro. El colecho se observó en 72%, principalmente múltiple o asociado a decúbito prono u otros factores de riesgo. En neonatos, el 81% de las ZG evaluables, tuvo un factor de riesgo asociado a las condiciones de sueño. Conclusiones: se identificaron patologías sobre las que es posible actuar desde la prevención (infecciones respiratorias, diagnóstico prenatal de cardiopatías). En los casos indeterminados, se identificaron factores de riesgo modificables desde el primer nivel de atención con la implementación de campañas educativas y recomendaciones sobre sueño seguro dirigidas a la comunidad.

Background: sudden unexpected death in infancy (SUDI) carries an impediment to sign the death certificate. A legal autopsy is mandatory to exclude unnatural death. To know the cause of death in infancy is relevant to health authorities and paediatrics. Objectives: to investigate the pathologies and risk factors in the cases of SUDI studied. Methods: autopsies between October 1998 and December 2015 were analysed. There was a free interval (2002 to 2006). It does not include every case of SUDI in the local population. The clinical records were gathered, the circumstances of death investigated and the family was interviewed. The cases were discussed in a multidisciplinary team. The cases were classified as Explained Death or Undetermined. The undetermined deaths were classified either as Gray Zone (GZ) or SIDS cases. Six categories were considered in GZ. To consider a case as SIDS, a safe sleep environment is required; that means no co-sleeping, no prone sleeping and no pillows use that could eventually cause suffocation. Cases were coded as GZ when a clear cause of death was not identified, but abnormalities were found that could have predisposed or contributed to death. GZ were divided in 6 categories. Results: 591 cases were examined. A cause of death was identified in 339 cases (57.4%). In 252 cases, it was undetermined (42.6%). A respiratory infection was found in 29% of the autopsies (50% of the explained deaths). A cardiac anomaly was found in 15%; dehydration secondary to diarrhoea in 4.5%; suffocation in 3%; a violent cause was identified in 1.5%. There were variations between both periods (1998-2001 and 2007-2015). 252 deaths remained unexplained after the autopsy (42.6%), these were the undetermined cases. 242 were classified as Gray Zone (GZ) and 10 as SIDS cases. 91% of the evaluable GZ cases <4 months old had an unsafe sleeping environment. Co-sleeping was observed in 72% of the evaluable <4 month cases; it was mainly multiple or associated with prone sleeping position. In newborns, 81% of the evaluable ZG cases had a sleep related risk factor. Conclusions: The study improved allowed to identify pathologies amenable to intervention and prevention (respiratory infections, prenatal diagnosis of congenital heart disease). Sleep related risk factors were identified, amenable to prevention through community education programs.

Granuloma piogénico gigante / Giant pyogenic granuloma: Case report and literature review

El granuloma piogénico es una lesión vascular adquirida, frecuente en niños y adultos jóvenes, que afecta piel y mucosas. Se presenta como un nódulo, único, de rápido crecimiento, con fácil sangrado frente a traumatismos. Su patogenia aún no está aclarada y existen variantes clínicas, dentro de ellas el granuloma piogénico gigante. Se presenta el caso de una paciente con un cuadro clínico e histológico de granuloma piogénico gigante, tratándose de una variante poco frecuente, la cual plantea diagnósticos diferenciales con otros tumores como melanoma amelanótico.

Pyogenic granuloma is an acquired vascular lesion affecting skin and mucous membranes, mostly in children and young adults. It presents as an unique nodule with fast growing and easy bleeding after minimal trauma. Its pathogenesis is still not clear and there are clinical variants, among them the giant pyogenic granuloma. A female patient with a clinical and histological giant pyogenic granuloma is reported. It is a rare entity which presents differential diagnosis with other tumors such as amelanotic melanoma.

Syringocystadenoma papilliferum arising on the scrotum.

An 8-year-old boy presented to the pediatric dermatology service with an elevated, moist and vegetated pinkish mass, measuring 4 × 5 × 2 cm in diameter, located in the scrotum. The lesion has been gradually increasing in size showing a recent accelerated growth. Excisional biopsy demonstrated the histological picture of syringocystadenoma papilliferum (SCAP). The interest of this report lies in the rarity of syringocystadenoma papilliferum, its unusual presentation in the scrotum not yet reported in pediatric literature, and the importance of differential diagnoses in this location.

Telangiectasia macularis eruptiva perstans / Macularis telangectasia eruptive perstans

Las mastocitosis son un grupo de enfermedades caracterizadas por la hiperplasia de mastocitos funcionalmente normales en diferentes tejidos. Se distinguen cuatro formas cutáneas: urticaria pigmentosa, mastocitoma solitario, mastocitosis cutánea difusa y telangiectasia macularis eruptiva perstans (TMEP). La TMEP es una forma de mastocitosis de presentación infrecuente en la infancia, que se caracteriza clínicamente por la presencia de máculas eritemato-castañas telangiectásicas. Su pronóstico es favorable y el tratamiento, de requerirlo, es sintomático y de índole estética. Presentamos dos casos inusuales de TMEP en la edad pediátrica

Mastocytosis comprise a group of entities characterized by the hyperplasia of normal mastocytes in different tissues. There are four forms of cutaneous mastocytosis: urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis and telangiectasia macularis eruptiva perstans (TMEP). The later is an uncommon condition in children with scarce reports in the literature, characterized by disseminated telangiectatic erythematous to brownish macules. It generally has a good prognosis and treatment, if required, consists in the relief of the symptoms when present or may be done because of cosmetic concern. Here we present two unusual cases of TMEP in the infancy

Enfermedades del apéndice cecal. Revisión de 10424 casos en un período de 20 años / Diseases of cecal apendix. Review of 10424 cases in 20 years

Objetivos: 1) Realizar un estudio retrospectivo de los hallazgos anátomo-patológicos de los estudios de apéndices cecales en la edad pediátrica realizados en un período de 20 años (1983-2003) en el Centro Hospitalario Pereira Rossell (CHPR) y concomitantemente en el Laboratorio Particular (LPPP) en el mismo período. 2) Comparar los hallazgos de las dos poblaciones examinadas. Material y métodos: todos los apéndices cecales fueron examinados de la misma manera. Los especímenes fueron seccionados longitudinalmente previa fijación en formol. Se realizó inclusión en parafina de la superficie de corte longitudinal total del apéndice. Resultados: se estudiaron 10.424 especímenes de apendicectomía: 6.705 correspondieron al CHPR y 3.719 al LPPP. 1.519 casos correspondieron a apéndices normales; 7.317 a apendicitis aguda focal; 502 a apendicitis aguda difusa sin periapendicitis;7.047 a apendicitis aguda difusa con periapendicitis. 11 casos correspondieron a apendicitis granulomatosa de etiología no determinada. Siete casos correspondieron a obliteraciones fibrosas del apéndice cecal. Los parásitos (especialmente oxiuros) se encontraron en 7 por ciento de los apéndices estudiados en los últimos años. Se encontraron 21 casos de tumores carcinoides; la mayoría de ellos estaba localizada en el tercio medio, con un tamaño medio de 7 mm; casi todos tenían apendicitis aguda concomitante y la mayoría correspondía a mujeres adolescentes. En relación con el LPPP, el CHPR tuvo menos casos de apéndices normales y de apendicitis focales (de inicio), así como más casos de apendicitis aguda difusa con periapendicitis. Conclusiones: el método de estudio consistente en la inclusión de una hemisección longitudinal del apéndice cecal permite un mejor reconocimiento de lesiones apendiculares que fácilmente pueden ser subdiagnosticadas si se utiliza otra metodología. La diferencia en la incidencia de diferentes enfermedades en las dos poblaciones examinadas podría estar indicando una demora en la consulta en la población hospitalaria. El elevado porcentaje de parásitos en los especímenes hospitalarios de los últimos años deberá evaluarse en conjunto con la situación socioeconómica de la población atendida.