Síndrome del nevo basocelular: experiencia en un hospital pediátrico / Nevoid Basal Cell Carcinoma Syndrome: Our Experience in a Pediatric Hospital

El síndrome del nevo basocelular o síndrome de Gorlin es un trastorno hereditario infrecuente, de carácter autosómico dominante, asociado a la mutación del gen PATCHED1. Se caracteriza por la presencia de múltiples carcinomas basocelulares y alteraciones óseas, cutáneas, oftalmológicas y neurológicas asociadas. Presentamos 6 pacientes evaluados en nuestro Servicio con diagnóstico de síndrome del nevo basocelular. Entre las manifestaciones observadas se destacan la presencia de hoyuelos palmoplantares en todos los pacientes (100%), carcinomas basocelulares múltiples en 5 pacientes (83%), malformaciones congénitas en 5 sujetos (83%), alteraciones esqueléticas en tres de ellos (50%) y queratoquistes odontógenos en un paciente (17%). Es de nuestro interés hacer hincapié en la importancia del diagnóstico y tratamiento temprano de esta enfermedad, debiendo realizar un seguimiento multidisciplinario a lo largo de toda la vida de estos pacientes (AU)

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team (AU)

Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital.

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Úlceras perianales sobre hemangioma con crecimiento mínimo o detenido segmentario / Perianal Ulcers on a Segmental Hemangioma With Minimal or Arrested Growth

Los hemangiomas con crecimiento mínimo o detenido son un tipo de hemangioma infantil en donde no se observa la fase proliferativa característica de los mismos o esta es menor o igual al 25% de la superficie del hemangioma. Esto lleva a que muchas veces sean confundidos con malformaciones vasculares capilares o incluso que pasen inadvertidos. Es importante conocerlos ya que pueden ulcerarse como lo hacen los hemangiomas infantiles típicos y por lo tanto merecen ser tenidos en cuenta para poder tratarlos en forma adecuada. Presentamos una niña de 3 meses de edad con úlceras perianales de evolución tórpida desde los 20 días de vida. Había recibido múltiples esquemas terapéuticos sin respuesta. En el estudio histopatológico de la úlcera se constató la presencia de un hemangioma infantil, GLUT-1 positivo. Realizó tratamiento con propranolol a 2mg/kg/día y cuidados locales con excelente respuesta (AU)

Hemangiomas with minimal or arrested growth are a type of infantile hemangioma in which the proliferative component characteristic of such lesions is not observed or accounts for less than 25% of the surface area of the hemangioma. For this reason, these lesions are frequently confused with capillary vascular malformations or may even go undetected. Awareness of these lesions is, however, important because they can become ulcerated, as occurs with typical infantile hemangiomas. A proper diagnosis is therefore important to enable administration of appropriate treatment. We present the case of a 3-month-old girl with slowly progressing perianal ulcers first detected when she was 20 days old. She had received many different therapies without any response. A pathology study of the ulcer showed a GLUT-1---positive infantile hemangioma. Response to treatment with propranolol 2 mg/kg/d and local wound care was excellent (AU)

Perianal ulcers on a segmental hemangioma with minimal or arrested growth.

Hemangiomas with minimal or arrested growth are a type of infantile hemangioma in which the proliferative component characteristic of such lesions is not observed or accounts for less than 25% of the surface area of the hemangioma. For this reason, these lesions are frequently confused with capillary vascular malformations or may even go undetected. Awareness of these lesions is, however, important because they can become ulcerated, as occurs with typical infantile hemangiomas. A proper diagnosis is therefore important to enable administration of appropriate treatment. We present the case of a 3-month-old girl with slowly progressing perianal ulcers first detected when she was 20 days old. She had received many different therapies without any response. A pathology study of the ulcer showed a GLUT-1-positive infantile hemangioma. Response to treatment with propranolol 2mg/kg/d and local wound care was excellent.

[Paraneoplastic pemphigus or paraneoplastic autoimmune multiorgan syndrome. Report of 2 cases in children and a review of the literature]. / Pénfigo paraneoplásico/síndrome multiorgánico autoinmune paraneoplásico. Presentación de dos casos en la edad infantil. Revisión de la literatura.

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and includes acantholysis or lichenoid dermatitis. Circulating autoantibodies are a constant feature and confirm the diagnosis. We describe 2 girls with paraneoplastic pemphigus associated with Hodgkin lymphoma in one and Castelman disease in the other. Both children had oral and genital lesions that did not respond to conventional treatments. Biopsy revealed acantholysis in one and a lichenoid reaction in the other, and immunoassays confirmed the diagnosis. Chemotherapeutic treatment of the underlying disease was performed in both cases, together with high-dose corticosteroids for the skin and mucosal lesions. Both patients died due to respiratory failure. We suggest that paraneoplastic pemphigus, although rare in childhood and adolescence, should be included in the differential diagnosis of periorificial erosive dermatitis; this may assist in the detection of an occult neoplasm.

Pénfigo paraneoplásico/síndrome multiorgánico autoinmune paraneoplásico. Presentación de dos casos en la edad infantil. Revisión de la literatura / Paraneoplastic Pemphigus or Paraneoplastic Autoimmune Multiorgan Syndrome. Report of 2 Cases in Children and a Review of the Literature

El pénfigo paraneoplásico es una enfermedad ampollosa autoinmune asociada a una neoplasia oculta o previamente diagnosticada, con manifestaciones clínicas, histológicas e inmunológicas bien definidas. Se caracteriza por erosiones de la mucosa orogenital refractarias a los tratamientos convencionales y la presencia de lesiones cutáneas polimorfas. La histología puede ser variada, con presencia de acantólisis o dermatitis liquenoide. La presencia de anticuerpos circulantes es un hallazgo constante que confirma el diagnóstico. Presentamos dos niñas con pénfigo paraneoplásico asociado a linfoma de Hodgkin y enfermedad de Castleman respectivamente. Presentaban compromiso orogenital refractario a tratamientos convencionales. En la histopatología se observó acantólisis y reacción liquenoide respectivamente. Los estudios inmunológicos confirmaron el diagnóstico. Ambas realizaron tratamiento quimioterápico para su enfermedad de base conjuntamente con altas dosis de corticosteroides para sus lesiones cutáneo-mucosas falleciendo por fallo respiratorio. Es de nuestro interés destacar que si bien es infrecuente la presencia de pénfigo paraneoplásico en la edad infantil y en la adolescencia, debe ser tenido en cuenta entre los diagnósticos diferenciales de las dermatosis erosivas periorificiales facilitando, de esta manera, el hallazgo de una neoplasia oculta (AU)

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and includes acantholysis or lichenoid dermatitis. Circulating autoantibodies are a constant feature and confirm the diagnosis. We describe 2 girls with paraneoplastic pemphigus associated with Hodgkin lymphoma in one and Castelman disease in the other. Both children had oral and genital lesions that did not respond to conventional treatments. Biopsy revealed acantholysis in one and a lichenoid reaction in the other, and immunoassays confirmed the diagnosis. Chemotherapeutic treatment of the underlying disease was performed in both cases, together with high-dose corticosteroids for the skin and mucosal lesions. Both patients died due to respiratory failure. We suggest that paraneoplastic pemphigus, although rare in childhood and adolescence, should be included in the differential diagnosis of periorificial erosive dermatitis; this may assist in the detection of an occult neoplasm (AU)

Endothelial regulation of eNOS, PAI-1 and t-PA by testosterone and dihydrotestosterone in vitro and in vivo.

The aim of this study is the identification of direct endothelial regulation by the androgens testosterone (T) and dihydrotestosterone (DHT). We tested the effects of T and DHT on nitric oxide (NO) synthesis and on tissue plasminogen activator (t-PA) and plasminogen activator inhibitor-1 (PAI-1) expression in human endothelial cells and in ovariectomized (OVX) rats. The results showed that at physiological concentrations T and DHT increase endothelial synthesis of NO. This depends on a rapid recruitment of the extracellular-related kinase (ERK) 1/2 and of the phosphatidylinositol 3-OH kinase (PI3K)/Akt cascades, resulting in endothelial nitric oxide synthase (eNOS) Ser(1177)-phosphorylation. In addition, a later increase of eNOS expression is found. With supra-physiological amounts of T or DHT the induction of NO synthesis is lost. A concentration-related increase of t-PA expression starting from physiological concentrations of T or DHT is found, whereas PAI-1 is augmented only with higher doses. Although DHT exerts these actions through androgen receptors (AR), T acts in part through aromatase-dependent conversion to 17ß-estradiol. Ovariectomy is associated with significant changes in eNOS, t-PA and PAI-1 expression in the aorta of Wistar rats and T and DHT result in modifications on eNOS, PAI-1 and t-PA that are in line with the in vitro experiments. In conclusion, T and DHT act on endothelial cells through AR or via conversion to estradiol. Physiological, but not higher amounts are associated with enhanced NO synthesis and an increased t-PA/PAI-1 ratio. These findings are useful to understand the impact of androgens in ageing individuals.

Differential actions of estrogen and SERMs in regulation of the actin cytoskeleton of endometrial cells.

Estrogen and selective estrogen receptor modulators (SERMs) differentially impact endometrial cell function, however, the biological basis of these differences is not established. Deregulated cell adhesion to the extracellular matrix, cell movement and invasion are related to endometrial disorders, such as endometriosis or endometrial cancer. Remodeling of the actin cytoskeleton is required to achieve cell adhesion and movement. Estrogen receptor (ER) regulates actin and cell membrane remodeling through extra-nuclear signaling cascades. In this article, we show that administration of 17beta-estradiol (E2) and tamoxifen (TAM) to immortalized Ishikawa endometrial cells or to human endometrial stromal cells (ESC) results in remodeling of actin fibers and cell membrane. This is linked to rapid phosphorylation on Thr(558) of the actin-binding protein moesin and enhanced migration and invasion of normal and Ishikawa cells. Raloxifene (RAL) does not result in moesin activation or actin remodeling. When endometrial cells are exposed to E2 in the presence of TAM or RAL, both SERMs interfere with the recruitment of moesin, with the remodeling of the cytoskeleton, and with cell movement and migration induced by E2. The differential actions of E2, TAM and RAL are linked to a distinct modulation of the extra-nuclear signaling of ER to G proteins and to the Rho-associated kinase. These findings increase our understanding of the actions of estrogen and SERMs in endometrial cells and highlight potential molecular targets to interfere with the estrogen-related altered cell adhesion encountered in endometrial disorders.

Scanning eye movements made when viewing film: preliminary observations.

Eye movements were recorded in 10 adult subjects during the viewing of fiction and nonfiction films. Individual differences in scan paths for fiction films were found to be relatively small. Generally, eyes concentrated on the screen center when looking at characters and objects in rapid motion. Scan paths through the screen were observed in special cases, for example, in the case of a dialogue between two characters. No differences emerged in scan paths for the same clip presented in black-and-white and color versions. Results are relevant for both filmmaking and research on perceptual and cognitive strategies involved in processing motion pictures.