Oral cysticercosis in the paediatric patient: report of six cases / Cisticercosis oral en el paciente pediátrico: informe de seis casos

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Rhabdomyomatous Mesenchymal Hamartoma: A Deep Subcutaneous Lesion in the Sternoclavicular Area.

Cutaneous rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign tumor composed of two or more types of mesenchymal-derived cells. RMHs are generally sporadic and independent, but they can be associated with congenital abnormalities. We report a subcutaneous case of RMH in the sternoclavicular area with two recurrences after complete surgical excision. The course is variable and can range from spontaneous resolution to repeated recurrences.

Analysis of POU5F1, c-Kit, PLAP, AP2γ and SALL4 in gonocytes of patients with cryptorchidism.

Cryptorchidism is a risk factor for the development of testicular germ cell tumors (TGCTs). The most common type of TGCT in cryptorchidism is seminoma. The intratubular germ cell neoplasia unclassified (ITGCNU) is a histological pattern preceding the development of seminomas and non-seminomas. It was suggested that in patients with cryptorchidism, the gonocytes remained undifferentiated with pluripotent abilities expressing proteins like POU domain class 5 transcription factor 1 (POU5F1), tyrosine kinase receptor c-Kit, placental-like alkaline phosphatase (PLAP), the transcription factor AP2γ and sal-like protein 4 (SALL4) that confer to the gonocytes this ability and therefore make them susceptible to develop ITGCNU. The aim of the present study was to determine if the gonocytes of patients with cryptorchidism express POU5F1, c-Kit, PLAP, AP2γ and SALL4 proteins after their differentiation period. Based on this, we evaluated samples of testicular tissue from newborns to 16-year old subjects with or without cryptorchidism in search of POU5F1, c-Kit, PLAP, AP2γ and SALL4 using immunocytochemical method, the results of which were validated by RT-PCR. The results showed that control subjects witnessed a down-regulation in the expression of these five proteins in the first year of life, which eventually disappeared. On the other hand, it was determined that 21.6% (8/37) of the patients with cryptorchidism continued to express, at least, one of the proteins analyzed in this study after the second year of life. And only 5.4% (2/37) of the patients were positive to the five markers. These data sustain the proposed hypothesis that in cryptorchid patients, ITGCNU arises from gonocytes that fail in their differentiation process to spermatogonia with conservation of the proteins (POU5F1, c-Kit, PLAP, AP2γ and SALL4) that maintain pluripotency and undifferentiated characteristics and which are responsible for making the gonocytes susceptible to malignancy. However, we cannot guarantee that these patients present neoplastic transformation.

Neonatal vesiculopustular eruption associated with transient myeloproliferative disorder: report of four cases.

BACKGROUND: Transient myeloproliferative disorder (TMD) affects up to 10% of patients with Down syndrome (DS). A small proportion of newborns are asymptomatic and only manifest circulating blast cells, with or without leukocytosis, while others present with hepatomegaly, splenomegaly, serous effusions, and liver fibrosis. Few cases in the literature also have skin manifestations, described as crusted, erythematous, vesiculopustular eruptions occurring mainly on the face, with spreading to the trunk and extremities. MATERIALS AND METHODS: Four patients with DS and TMD were studied due to the presence of cutaneous eruptions. Systemic involvement, work-up, and follow-up were documented for each patient. Our results were compared with the previously reported cases. RESULTS: All patients were males, with ages ranging from 1 to 20 days at the time of diagnosis. In three patients, the eruption was papulopustular, and two of them also had vesicles. In one patient, lesions resembled bullous impetigo. In all, the lesions involved the face, followed by the extremities in three and the trunk in two patients. Pathergy phenomena was present in one patient. Hepatomegaly and a leukemoid reaction were present in all patients. Bone marrow showed an M7 immunophenotype in three patients and normal cellularity in one. Follow-up ranged from 2 to 11 months, during which the patients were healthy. CONCLUSIONS: Recognition of the cutaneous eruptions associated with TMD in neonate patients with DS may lead to early diagnosis and avoidance of unnecessary chemotherapy. However, because leukemia may develop later, careful follow-up is mandatory in all cases.

Síndrome de Hermansky-Pudlak: Expresión clínica variable en dos casos clínicos / Hermansky-Pudlak syndrome: variable clinical expression in two cases

Introducción. El síndrome de Hermansky-Pudlak es un padecimiento genético caracterizado por albinismo y hemorragias, en grado variable, por alteraciones en la estructura de las plaquetas. Puede presentar alteraciones pulmonares, intestinales o renales. En la literatura se han reportado varias alteraciones genéticas relacionadas a este síndrome. Casos clínicos. Se presentan dos casos. El primero se trató de un adolescente de sexo masculino con albinismo mucocutáneo y afección a nivel renal. Los episodios de sangrado iniciaron después de ser sometido a venopunciones y estudios invasivos. Desarrolló, incluso, un hematoma perirrenal. Después de una sepsis de foco abdominal, presentó hemoperitoneo y hemorragia pulmonar, que precipitó su muerte; el diagnóstico se realizó post mórtem. El segundo caso se trató de una paciente de sexo femenino en quien, desde el periodo de lactancia, se identificó el síndrome por el albinismo mucocutáneo, los episodios de sangrado y los datos de fibrosis pulmonar progresiva, lo que ha limitado su capacidad vital. Conclusiones. El diagnóstico del síndrome, así como el abordaje correcto y temprano pueden evitar el desarrollo de complicaciones o limitar su evolución. Aún es materia de debate si las alteraciones genéticas descritas se asocian a la expresión de alguna manifestación clínica particular.

Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.

Tumor miofibroblástico inflamatorio de amígdala: informe de un caso con revisión de la literatura / Inflammatory myofibroblastic tumour of the tonsil: case report and literature review

El tumor miofibroblástico inflamatorio (seudotumor inflamatorio) es una lesión idiopática, poco frecuente en cabeza y cuello, de etiología desconocida, que se presenta más comúnmente en tejidos blandos, pulmón y órbita. En la literatura mundial solo se tiene conocimiento previo de 2 casos con afección amigdalar. Informamos del caso de una niña de 10 años, que ingresó en nuestro hospital con cuadro clínico de dolor en la región cervical, tos con vómito, disnea y dislexia, la exploración física mostró halitosis y una neoformación dependiente de la amígdala izquierda, se le realizó amigdalectomía bilateral(AU)

Inflammatory myofibroblastic tumour (inflammatory pseudotumor) is an idiopathic lesion, rare in the head and neck, of unknown aetiology. It is primarily a soft tissue, lung and orbital condition. In the world literature, only two cases with tonsillar disease have been found. We report a case of a 10-year-old girl admitted to our hospital with clinical complaints of pain in the neck region, cough with vomiting, dyspnoea and dyslexia. Clinical examination revealed halitosis and a neoformation dependent on the left tonsil. Bilateral tonsillectomy was performed(AU)

[Inflammatory myofibroblastic tumour of the tonsil: case report and literature review]. / Tumor miofibroblástico inflamatorio de amígdala: informe de un caso con revisión de la literatura.

Inflammatory myofibroblastic tumour (inflammatory pseudotumor) is an idiopathic lesion, rare in the head and neck, of unknown aetiology. It is primarily a soft tissue, lung and orbital condition. In the world literature, only two cases with tonsillar disease have been found. We report a case of a 10-year-old girl admitted to our hospital with clinical complaints of pain in the neck region, cough with vomiting, dyspnoea and dyslexia. Clinical examination revealed halitosis and a neoformation dependent on the left tonsil. Bilateral tonsillectomy was performed.

Treatment of Kimura disease with intravenous immunoglobulin.

Kimura disease is an uncommon chronic inflammatory condition of unknown etiology and is characterized by painless subcutaneous nodules, usually affecting the head and neck, eosinophilia, and markedly elevated immunoglobulin E levels. Several reports have described the main modalities of treatment; both corticosteroids and surgery have provided good results, but occasionally corticosteroids cannot be tapered as the disease flares up. We report here the case of an 8-year-old boy diagnosed with Kimura disease who was successfully treated with 1 dose of intravenous immunoglobulin as a steroid-sparing agent.

Congenital cutaneous angioleiomyoma.

Congenital cutaneous angioleiomyoma is an extremely rare benign smooth muscle tumor. We present a case of a firm, painful subcutaneous mass noticed at birth on the left leg that on surgical excision proved to be an angioleiomyoma. Prognosis is good, and recurrences are uncommon. To our knowledge, this is the second report of a congenital angioleiomyoma.

Malformaciones cardiacas en pacientes con pentalogía de Cantrell y ectopia cordis / Cardiac malformations in patients with pentalogy of cantrell and ectopia cordis

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Central odontogenic fibroma: new findings and report of a multicentric collaborative study.

OBJECTIVE: The aim of this study was to describe the clinicopathologic and immunohistochemical characteristics of 14 cases of central odontogenic fibroma (COF), and the ultrastructural features of 2 of them. STUDY DESIGN: Collaborative retrospective study based on the records of 4 oral pathology diagnostic services in Latin America based on the current World Health Organization classification. RESULTS: There were 7 male and 7 female patients (mean age 31.8 years). Eight tumors occurred in the maxilla and 6 in the mandible. Thirteen cases were epithelium-rich and 1 epithelium-poor COF. Three were classified as hybrid COF with giant cell lesion. Mean size of the hybrid lesions were larger than pure COF (3.8 vs. 2.4 cm). Odontogenic epithelial islands were immunoreactive for cytokeratin (CK) AE1/AE3, CK5, CK14, CK19, and 34BE12 and negative for CK1 and CK18. Langerhans cells positive for S-100 and CD1a were found within the epithelial islands in 6/6 tested cases. CD68 was expressed in the giant cells of the hybrid lesions and in a few mononuclear cells of 2 cases of COF. Ki-67 index was <1% in all cases. In 6 tumors (42.8%), there were small globular eosinophilic droplets within the epithelial islands, which were positive for collagen type IV, and 9/13 cases (69.2%) were focally positive for smooth muscle actin. In addition to fibroblasts, myofibroblastic differentiation was found in the 2 cases studied ultrastructurally. CONCLUSIONS: Immunohistochemistry was useful to confirm the presence of epithelium and to exclude other central fibrous tumors. COF also contains a variable number of mast cells, Langerhans cells, and myofibroblasts, and further studies are needed to better understand the participation of these cells in COF histogenesis.

[Cardiac malformations in patients with pentalogy of Cantrell and ectopia cordis]. / Malformaciones cardiacas en pacientes con pentalogía de Cantrell y ectopia cordis.

We studied 21 patients who presented with a diagnosis of pentalogy of Cantrell. Their mean age was 40 days. All patients presented with congenital heart disease. Six presented with ectopia cordis. Every patient was subjected to echocardiography. Double outlet right ventricle, an atrial septal defect and dextrocardia were seen in 5 patients (24%). Four patients survived. Seventeen died, 12 from sepsis or septic shock. Autopsies were performed on 10 patients. All of the ectopia cordis patients died. Pentalogy of Cantrell is uncommon, and its association with ectopia cordis indicates poor prognosis. Full English text available from: www.revespcardiol.org.

Piroxicam and meloxicam ameliorate hepatic oxidative stress and protein carbonylation in Kupffer and sinusoidal endothelial cells promoted by ischemia-reperfusion injury.

The present study was aimed to assess the effect of protein carbonylation (PC) in hepatic cells and effects of nonsteroidal anti-inflammatory drugs (NSAIDs) on indicators of tissue damage induced by liver ischemia-reperfusion injury (LIRI). Warm ischemia was performed by partial vascular occlusion during 90 min in Wistar rats. In serum, we determined the catalytic activity of Alanine Aminotransferase, Aspartate Aminotransferase, Lacticate Dehydrogenase, and Ornithine Carbamoyltransferase. In liver samples, we studied cellular alterations by means of histologic studies, lipid peroxidation, PC by immunohistochemistry, apoptosis and reactive oxygen species in bile by electron paramagnetic resonance. Based on PC data, sinusoidal endothelial cells (SEC) and Kupffer cells (KC) were the first to exhibit LIRI-associated oxidative damage and prior to parenchymal cells. Administration of piroxicam or meloxicam during the pre-ischemic period produced a highly significant decrease in all studied injury indicators. No significant differences were revealed between the protective action of the two drugs. The data shown here suggest the potential use of NSAIDs such as piroxicam or meloxicam in minimizing ischemic event-caused damage in liver. We also propose that PC may be employed as an adequate tool to assess tissue damage after oxidative stress.

Comparative expression of syndecan-1 and Ki-67 in peripheral and desmoplastic ameloblastomas and ameloblastic carcinoma.

The aims of the present study were to examine whether the pattern of syndecan-1 expression correlates with cellular proliferation index in desmoplastic ameloblastomas (DA), peripheral ameloblastomas (PA) and ameloblastic carcinomas (AC), and to compare with that previously reported for solid (SA) and unicystic (UA) variants of ameloblastoma. Immunohistochemistry was performed for syndecan-1 and Ki-67 in seven ameloblastomas (four DA and three PA) and three AC. Expression of syndecan-1 was related to the histological subtype of tumors and, in the case of malignancy, to lower expression levels observed in AC (22.5%) than in PA (47.5%) or DA (77.5%) (P < 0.05). Syndecan-1 expression correlated inversely with Ki-67 proliferative index: the expression was lower in both types of ameloblastomas (1.5% in DA and 6.4% in PA) than in AC (41.2%; P < 0.05). The present results suggest that the decrease in syndecan-1 expression and increase in the Ki-67 index observed in AC is in accordance with its higher aggressiveness as compared to the rare DA and PA. Interestingly, DA had a lower proliferation index as well as the highest levels of syndecan-1 expression. These data suggest that DA differ from the other types of intraosseous ameloblastomas but more studies are necessary to better understand the role of this protein as a marker in the biological behavior of the epithelial odontogenic neoplasms.

Hyper-IgE syndrome and autoimmunity in Mexican children.

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.

Comunicación de un caso de malformación arteriovenosa pulmonar en la adolescencia / Arteriovenous malformation of the lung in a fourteen year old girl

Las malformaciones arteriovenosas pulmonares (MA VP) son comunicaciones anormales entre las arterias y las venas pulmonares. Las MAVP, están caracterizadas por cortocircuitos de derecha a izquierda de grado variable y el efecto de estas comunicaciones depende del tamaño de los vasos involucrados. Puede presentarse hipoxemia, hipocratismo digital y poliglobulia secundario al cortocircuito intrapulmonar. Presentamos el caso de un paciente femenino de 14 años de edad con MA VP pulmonar, cuyos hallazgos a la exploración física fueron hipocratismo digital y cianosis.

Pulmonary arteriovenous malformations (PVAM) are abnormal communications between pulmonary arteries and pulmonary veins, which are more commonly congenital in nature. Pulmonary arteriovenous fistulae are characterized by right-to-left shunts of variable magnitude; the effect of these communications depends on the size of the vessels involved. Arterial oxygen desaturation, cyanosis, clubbing of the fingers, and polycythemia may occur, secondary to the intrapulmonary shunt. We report the case of a 14-year-old female patient with PA VM; the findings on physical examination were clubbing of her fingers and cyanosis.

Linfoma cutáneo angiocéntrico de células T que semeja hidroa vacciniforme / Angiocentric cutaneous lymphoma in a 14 year old female adolescent

Introducción. Los linfomas cutáneos son procesos linfoproliferativos malignos de células B o T, con una variedad de manifestaciones clínicas, sin que exista enfermedad extracutánea al momento del diagnóstico. Existen reportes de casos de lesiones cutáneas previas, determinadas por fotosensibilidad, que se asocian a linfomas cutáneos. Se presenta el caso de un paciente femenino con diagnóstico de linfoma cutáneo angiocéntrico que semeja hidroa vacciniforme. Caso clínico. Adolescente femenino de 14 años de edad, que ingresó al Hospital General Dr. Aurelio Valdivieso del Estado de Oaxaca en el mes de octubre de 2003. Cuadro actual: 8 meses previos a su ingreso con dermatosis en áreas expuestas al sol, caracterizadas por vesículas y pápulas, que evolucionaron a úlceras y necrosis en miembros torácicos y piernas, con hepatoesplenomegalia y edema centrofacial. La histopatología de la lesión reveló vasculitis angiocéntrica, angiodestructiva, con linfocitos atípicos y paniculitis. Se definió el diagnóstico de linfoma cutáneo angiocéntrico. Se instaló quimioterapia combinada con involución de su dermatosis y compromiso sistémico. Conclusión. El presente caso cumple con criterios clínico e histopatológicos de linfoma cutáneo angiocéntrico, con adecuada respuesta a quimioterapia de combinación, sobre todo basada en antraciclinas.

Introduction. The cutaneous lymphoma is a malignant lymphoproliferative process of B or T, cells with a variety of clinical manifestation without extracutaneous disease at the time of diagnosis. There are case reports in the literature which have associated prior cutaneous injuries, with cutaneous lymphoma as determined by photosensitization. The present case report is of a female patient with diagnosis of cutaneous angiocentric lymphoma which resembled hydroa vacciniform. Case report. Female adolescent 14 year of age who was admitted to Hospital General Dr. Aurelio Valdivieso in the State of Oaxaca, Mexico. Eight months prior to hospital admission she presented dermatosis in areas exposed to the sun, characterized by vesicles, papules which evolved to ulcers and necrosis in arms and legs, she also presented with hepatosplenomegaly and facial edema. The histopatology of the lesions revealed angiodestructive, angiocentric vasculitis with atypical lymphocytes and paniculitis. The diagnosis of angiocentric cutaneous lymphoma was made. The patient was treated with combined chemotherapy with involution of her dermatosis and systemic findings. Conclusion. The present case fulfills the histopathology and clinical criteria of an angiocentric cutaneous lymphoma, with suitable response to combined chemotherapy based on anthracyclines.

Discoid lupus erythematosus in children: clinical, histopathologic, and follow-up features in 27 cases.

Among 27 pediatric patients with a clinicopathologic diagnosis of discoid lupus erythematosus (DLE), 15 had localized cutaneous lesions and 12 had disseminated lesions. During a mean follow-up period of 36 months, seven patients (26%) developed systemic lupus erythematosus (SLE). Four of these patients were less than 10 years of age. No correlation was found between localized and disseminated lesions and evolution to SLE. Three of four patients with a positive family history for rheumatoid disease developed SLE (p < 0.05). Hyperpigmentation was significantly more frequent (p < 0.04) in children less than 10 years of age. There was a female predominance of 5:1 among patients less than 10 years of age. Our findings suggest that onset of DLE prior to 10 years of age does not indicate a greater risk of developing SLE. The occurrence of localized or disseminated lesions does not seem to influence the outcome.