Uleritema ofriógenes como entidad asociada al síndrome 18p- en un paciente pediátrico / Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient

El uleritema ofriógenes es un trastorno cutáneo benigno y poco frecuente que se presenta habitualmente en la infancia. Se caracteriza por pápulas foliculares eritematosas y queratósicas en el lateral de las cejas, que con el tiempo suelen evolucionar a alopecia cicatricial. Dicha entidad puede aparecer como manifestación clínica aislada o asociada a varios síndromes congénitos (18p-, Cornelia de Lange, Noonan y Rubinstein- Taybi, entre otros). Presentamos el caso de un paciente de 13 años con síndrome 18p- que consultó por lesiones puntiformes rugosas al tacto y pérdida de pelo en ambas cejas (uleritema ofriógenes), así como por hiperqueratosis pilar en brazos. Esta tríada, conocida como síndrome de Zouboulis, ha sido poco descrita en la literatura. Se considera que el reconocimiento del uleritema ofriógenes es de crucial importancia ya que, ante su presencia, debería realizarse una anamnesis y una exploración física exhaustivas en búsqueda de otras alteraciones que pudieran orientar a la existencia de un trastorno genético subyacente.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein-Taybi, among others). We present a 13-year-old male with 18p- syndrome who consults for rough lesions and hair loss in both eyebrows (ulerythema ophryogenes), as well as for hyperkeatosis pilaris in both arms. This triad, known as Zouboulis syndrome, has been rarely reported in the literature. We consider that the recognition of ulerythema ophryogenes is of crucial importance since, in view of its presence, comprehensive anamnesis and physical examination should be performed in search of other alterations that could guide the existence of an underlying genetic disord

[Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient]. / Uleritema ofriógenes como entidad asociada al síndrome 18pen un paciente pediátrico.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein- Taybi, among others). Uleritema ofriógenes como entidad asociada al síndrome 18pen un paciente pediátrico Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient We present a 13-year-old male with 18p- syndrome who consults for rough lesions and hair loss in both eyebrows (ulerythema ophryogenes), as well as for hyperkeatosis pilaris in both arms. This triad, known as Zouboulis syndrome, has been rarely reported in the literature. We consider that the recognition of ulerythema ophryogenes is of crucial importance since, in view of its presence, comprehensive anamnesis and physical examination should be performed in search of other alterations that could guide the existence of an underlying genetic disorder.

El uleritema ofriógenes es un trastorno cutáneo benigno y poco frecuente que se presenta habitualmente en la infancia. Se caracteriza por pápulas foliculares eritematosas y queratósicas en el lateral de las cejas, que con el tiempo suelen evolucionar a alopecia cicatricial. Dicha entidad puede aparecer como manifestación clínica aislada o asociada a varios síndromes congénitos (18p-, Cornelia de Lange, Noonan y Rubinstein- Taybi, entre otros). Presentamos el caso de un paciente de 13 años con síndrome 18p- que consultó por lesiones puntiformes rugosas al tacto y pérdida de pelo en ambas cejas (uleritema ofriógenes), así como por hiperqueratosis pilar en brazos. Esta tríada, conocida como síndrome de Zouboulis, ha sido poco descrita en la literatura. Se considera que el reconocimiento del uleritema ofriógenes es de crucial importancia ya que, ante su presencia, debería realizarse una anamnesis y una exploración física exhaustivas en búsqueda de otras alteraciones que pudieran orientar a la existencia de un trastorno genético subyacente.

[Scrotum-perineal granular cell tumor in pediatric age: A case report.] / Tumor de células granulares escroto-perineal en edad pediátrica: a propósito de un caso.

OBJECTIVE: Report a case of a scrotum-perinea lGranular Cell Tumor (GCT) in pediatric age. METHODS: To report a case. RESULTS: A 12 years old men with a multiple GCT history, located in both extremities, abdomen and scrotum perineal region. Surgical excision of all lesions and a genetic studyare performed to rule out Noonan syndrome. CONCLUSION: GCT or Abrikossoff tumor is a tumor witha very low incidence, especially in pediatric age. The most frequent form of presentation a solitary nodule and the most common behavior is in the form of a benign tumor. Immunohistochemistryis crucial for its diagnosis, the main characteristicis positivity for the S100 protein. Although scrotal location is very rare, it must be considered in the differential diagnosis of scrotal mass. Surgical excision is the treatment of choice.

OBJETIVO: Exposición de un caso de Tumor de Células Granulares (TCG) escroto-perineal en edad pediátrica.MÉTODOS: Presentación de un caso clínico. RESULTADOS: Se trata de un paciente de 12 años de edad con historia de TCG múltiples, localizados en ambas extremidades, abdomen y región escroto-perineal. Se realiza exéresis quirúrgica de todas las lesiones y se lleva a cabo estudio genético para descartar síndrome de Noonan.CONCLUSIÓN: El TCG o Tumor de Abrikossoff es un tumor con una incidencia muy baja, sobre todo en edad pediátrica. La forma de presentación más frecuente es la de nódulo solitario y el comportamiento más habitual es como tumor benigno. La inmunohistoquímica resulta crucial para su diagnóstico, siendo lo más característico su positividad para la proteína S-100. Aunque la localización escrotal es muy poco frecuente, hay que considerarla en el diagnóstico diferencial de masa escrotal. La exéresis quirúrgica es el tratamiento de elección.

Multifocal granular cell tumors in a 10-year-old boy.

Multifocal granular cell tumor is a poorly understood entity. Its importance lies in its association with several genetic disorders and the challenging distinction between multifocal and metastatic granular cell tumor. Herein, we report an unusual case of nonmalignant, multifocal, granular cell tumors affecting the skin, including the scrotum, in a 10-year-old boy.

Tumor de células granulares escroto-perineal en edad pediátrica: a propósito de un caso / Pediatric scrotoperineal granular cell tumor: report of a case

Objetivo: Exposición de un caso de Tumorde Células Granulares (TCG) escroto-perineal en edad pediátrica.Métodos: Presentación de un caso clínico.Resultados: Se trata de un paciente de 12 años de edadcon historia de TCG múltiples, localizados en ambas extremidades, abdomen y región escroto-perineal. Se realizaexéresis quirúrgica de todas las lesiones y se lleva a caboestudio genético para descartar síndrome de Noonan.Conclusiones: El TCG o Tumor de Abrikossoff es un tumor con una incidencia muy baja, sobre todo en edad pediátrica. La forma de presentación más frecuente es la denódulo solitario y el comportamiento más habitual es comotumor benigno. La inmunohistoquímica resulta crucial para su diagnóstico, siendo lo más característico su positividadpara la proteína S-100. Aunque la localización escrotal esmuy poco frecuente, hay que considerarla en el diagnóstico diferencial de masa escrotal. La exéresis quirúrgica esel tratamiento de elección.(AU)

Objetive: Report a case of a scrotum-perineal Granular Cell Tumor (GCT) in pediatric age.Methods: To report a case.Results: A 12 years old men with a multiple GCT history,located in both extremities, abdomen and scrotumperinealregion. Surgical excision of all lesions and a genetic studyare performed to rule out Noonan syndrome.Conclusion: GCT or Abrikossoff tumor is a tumor witha very low incidence, especially in pediatric age. The mostfrequent form of presentation a solitary nodule and the mostcommon behavior is in the form of a benign tumor. Immunohistochemistry is crucial for its diagnosis, the main characteristic is positivity for the S100 protein. Although scrotallocation is very rare, it must be considered in the differentialdiagnosis of scrotal mass. Surgical excision is the treatmentof choice.(AU)

Presencia de elementos de los cordones sexuales en cistoadenoma seroso de ovario / Ovarian serous cystadenofibroma with sex cord differentiation

Se presenta un caso de cistoadenofibroma seroso ovárico con elementos de los cordones sexuales en una paciente posmenopáusica. A raíz del diagnóstico se realizó una búsqueda bibliográfica, encontrando un único caso previo descrito en la literatura. La presencia de estructuras de los cordones sexuales puede pasar inadvertida en el estudio histopatológico si no se realiza un muestreo exhaustivo y si no se tiene en mente esa posible combinación. Las repercusiones en el pronóstico son inciertas (AU)

A case of ovarian serous cystadenofibroma with sex cord differentiation in a postmenopausal woman is described. The diagnosis prompted a literature search, which revealed only one previous similar case. The presence of sex cord structures can go unnoticed in histopathologic examination if the sampling is not exhaustive or the mixture of both histological types is not considered. The repercussions on prognosis are unknown (AU)

Sporadic oral angiomyolipoma. Case report.

Angiomyolipoma (AML) is a rare, benign tumour composed of a variable proportion of lipocytes, smooth muscle and thick-walled blood vessels. AML is part of a family of tumours arising from perivascular epithelioid cells (PEComas), and many cases are associated with tuberous sclerosis, with the kidney being the most frequent site involved. We report a case of sporadic AML in the hard palate of a 52-year-old male, an extremely unusual location for this tumour. Differentiation from other benign and malignant oral mesenchymal lesions depends on recognition of the three histologic components, and immunohistochemical techniques may be helpful. AML occurring in the head and neck do not express HMB-45, an antibody that identifies immature melanosomes, conversely to the usual immunopositivity shown in AMLs from kidney and liver, suggesting that there are differences among them. A wide surgical excision is considered curative, as this tumour usually behaves in a benign fashion.

Sporadic oral angiomyolipoma. Case report

El angiomiolipoma (AML) es un tumor benigno infrecuente compuesto por una proporción variable de lipocitos, músculo liso y vasos de paredes gruesas. Forma parte de la familia de tumores originados en las células epitelioides perivasculares (PEComas), y muchos casos se asocian a esclerosis tuberosa, siendo el riñón la localización más frecuente. Presentamos un caso de AML esporádico en el paladar duro de un varón de 52 años, una localización extremadamente rara para este tumor. El diagnóstico diferencial con otras lesiones mesenquimales tanto benignas como malignas de la zona se basa en la identificación histológica de los 3 componentes, siendo de ayuda las tinciones inmunohistoquímicas. Los AMLs localizados en cabeza y cuello no expresan HMB-45, un anticuerpo que identifica melanosomas inmaduros, mientras que los renales y hepáticos sí lo hacen, lo que sugiere que existen diferencias entre ambos AMLs. El tratamiento de elección es la exéresis quirúrgica completa, ya que estos tumores suelen tener un comportamiento benigno

Angiomyolipoma (AML) is a rare, benign tumour composed of a variable proportion of lipocytes, smooth muscle and thick-walled blood vessels. AML is part of a family of tumours arising from perivascular epithelioid cells (PEComas), and many cases are associated with tuberous sclerosis, with the kidney being the most frequent site involved. We report a case of sporadic AML in the hard palate of a 52-year-old male, an extremely unusual location for this tumour. Differentiation from other benign and malignant oral mesenchymal lesions depends on recognition of the three histologic components, and immunohistochemical techniques may be helpful. AML occurring in the head and neck do not express HMB-45, an antibody that identifies immature melanosomes, conversely to the usual immunopositivity shown in AMLs from kidney and liver, suggesting that there are differences among them. A wide surgical excision is considered curative, as this tumour usually behaves in a benign fashion

Evaluation of the bilio-pancreatic region using endoscopic ultrasonography in patients referred with and without abdominal pain and CA 19-9 serum level elevation.

CONTEXT: When assessing the bilio-pancreatic region, collating the findings of serum CA 19-9 values together with findings from various imaging tests--especially endoscopic ultrasonography--is not a simple issue in daily clinical practice. AIM: To assess the usefulness of endoscopic ultrasonography in an Endoscopic Ultrasonography Unit in two situations: patients with asymptomatic elevation of serum CA 19-9 and patients who presented with abdominal pain plus elevation of CA 19-9. METHODS: A retrospective study of those patients who underwent radial endoscopic ultrasonography between October 2004 and September 2005 in our institution, considering an elevation of CA 19-9 (equal to or greater than 37 U/mL) with or without symptoms. In each case, the parameters recorded were: levels of CA 19-9 one week before EUS, results from other imaging techniques (US, helical CT), and final diagnosis according to pathological and/or clinical evolution criteria. Patients with previous attacks of acute pancreatitis and also those who presented with bile duct dilation or space-occupying lesions in image studies (US and CT) were excluded. Twenty-two patients met the inclusion criteria. RESULTS: Asymptomatic elevation of CA 19-9 was found in 15 patients while 7 patients had elevated CA 19-9 levels as well as pain of uncertain origin. The results of EUS in the asymptomatic patients were: chronic pancreatitis in 7 patients, no pancreatic alterations in 3 patients, and renal cysts, choledocholithiasis, microlithiasis and liver cirrhosis in one patient, respectively. In patients with abdominal pain, EUS showed chronic pancreatitis in 6 cases and adenocarcinoma of the tail of the pancreas in the remaining patient. CONCLUSIONS: When EUS was indicated for the asymptomatic elevation of CA 19-9, the main findings were benign diseases. EUS was useful in studying patients with idiopathic abdominal pain and a slight elevation of CA 19-9 since it allowed us to detect chronic pancreatitis and even early adenocarcinoma of the pancreatic tail.

YtkD and MutT protect vegetative cells but not spores of Bacillus subtilis from oxidative stress.

ytkD and mutT of Bacillus subtilis encode potential 8-oxo-dGTPases that can prevent the mutagenic effects of 8-oxo-dGTP. Loss of YtkD but not of MutT increased the spontaneous mutation frequency of growing cells. However, cells lacking both YtkD and MutT had a higher spontaneous mutation frequency than cells lacking YtkD. Loss of either YtkD or MutT sensitized growing cells to hydrogen peroxide (H2O2) and t-butylhydroperoxide (t-BHP), and the lack of both proteins sensitized growing cells to these agents even more. In contrast, B. subtilis spores lacking YtkD and MutT were not sensitized to H2O2, t-BHP, or heat. These results suggest (i) that YtkD and MutT play an antimutator role and protect growing cells of B. subtilis against oxidizing agents, and (ii) that neither YtkD nor MutT protects spores against potential DNA damage induced by oxidative stress or heat.