Esclerodermia y cáncer de mama / Systemic sclerosis and breast cancer

Varios estudios han demostrado un aumento de la incidencia de cáncer en pacientes con esclerodermia sistémica, sobre todo en cáncer de pulmón,pero también en cáncer de mama. Presentamos una esclerodermia sistémica rápidamente progresiva en una mujer de 70 años, con afectación sistémicaprecoz, e induración en la mama izquierda. La realización de mamografías y biopsias repetidas diagnosticaron un adenocarcinoma de mama. Elintervalo entre ambos diagnósticos fue de 9 meses (AU)

Several studies have demonstrated an increase in cancer in patients with systemic sclerosis (SS) especially lung cancer, but also breast cancer. We presenta rapidly progressive SS, in a 70 years old woman, with early systemic affectation and left breast induration. Mammography and several biopsiesdiagnosed a breast adenocarcinoma. The duration between SS onset and breast cancer diagnosis was 9 months (AU)

Lupus-like reaction to interferon at the injection site: report of five cases.

BACKGROUND: Interferon therapy at the injection sites has been related to different cutaneous lesions including erythema and induration as the most frequent ones. While the glycoprotein induces fatigue, fever and is even believed to precipitate autoimmune disorders such as type I diabetes, thyroid disease and systemic lupus erythematosus, a lupus erythematosus-like histologic reaction at the interferon injection site has never been reported. To our knowledge, a microscopic self-resolving lesion mimicking lupus erythematosus at the injection site of interferon has not been described. RESULTS: We report five cases of cutaneous lesions at the inoculation site of interferon with a histopathologic lupus erythematosus-like pattern. Three of them were receiving interferon alfa therapy because of a malignant melanoma and the other two patients were receiving interferon beta-1b for multiple sclerosis. Biopsy specimens taken from different lesions showed similar microscopic findings consisting of dermal mucin deposits and dense lymphocytic infiltrates along hair follicles with hydropic degeneration of follicular basal layer. CONCLUSIONS: Multiple cutaneous lesions related to interferon at the injection site have been reported, but none of them with a histologic lupus-like presentation. In this study we describe five cases in which interferon therapy has induced a resolutive cutaneous lesion mimicking lupus erythematous. This peculiar microscopic pattern has been previously described once before, but interpreted as cutaneous mucinosis.

Genetic analysis of the GRM1 gene in human melanoma susceptibility.

Data obtained from a mouse model indicated that the ectopic expression of the Grm1 gene is sufficient for transforming melanocytes and causing malignant melanoma in vivo. In addition, it has also been documented that the GRM1 gene is aberrantly expressed in human melanomas. Here we have performed a genetic association study to elucidate whether the GRM1 gene contributes to human melanoma susceptibility. To carry out this study, we initially genotyped 250 melanoma patients and 329 nonselected and nonrelated controls with three single nucleotide polymorphisms, rs854145, rs362962 and rs6923492, located in the intron 1, intron 4 and exon 10 of the GRM1 gene, respectively. To perform sample genotyping, we used pyrosequencing techniques. Regarding rs854145 and rs6923492, there were no differences in genotypic distribution or allelic frequency between patients and controls. However, we observed (i) a higher frequency of patients carrying the C allele of rs362962 than in controls (OR=1.40, CI=[1.01-1.95], P=0.045), and (ii) that difference became greater in a subgroup of patients with a low level of sun exposure and tumours located on the trunk and extremities (OR=2.10, CI=[1.26-3.51], P=0.0039). To confirm these observations, the sample size of both patient and control groups was increased. In total, 464 patients and 561 controls were genotyped for the rs362962 polymorphism. Only the second observation was confirmed (OR=1.69, CI=[1.16-2.47], P=0.0064). Our results suggest that the GRM1 gene may contribute to melanoma susceptibility in that specific group of patients.

[Treatment of mycosis fungoides with PUVA and bexarotene]. / Tratamiento de micosis fungoide con PUVA más bexaroteno.

INTRODUCTION: The combined use of bexarotene and PUVA is a treatment that is currently being investigated. In this paper, six patients treated with this combination are presented. OBJECTIVES: To assess the efficacy and safety of treatment with PUVA + bexarotene in patients with mycosis fungoides (MF). Patients, material and methods. Six patients diagnosed with MF in different stages, who received three sessions of PUVA treatment a week (initially 2.35 J/cm 2, with progressive increases to a maximum of 23.5 J/cm 2) + bexarotene (initial dose 300 mg/m 2/day, decreasing to 200, 150 or 75 mg/m 2 if signs of toxicity appeared). All received atorvastatin. RESULTS: Stage at the start of treatment: two patients IIb, one patient Ib with B2 blood involvement, two patients Ib, one patient Ia. Five of the six patients responded to the treatment (three full remissions [FR], two partial remissions [PR]). One patient did not respond. In those in whom FR was achieved, the time required for the response was 10, 20 and 24 weeks. All presented with hypertriglyceridemia (maximum 1194 mg/ dL). It was necessary to administer thyroid hormone supplements to four of the patients. Two of them had alterations in the hepatic biochemistry values, and two others presented with alterations in the muscle profile analysis. CONCLUSION: The combination of PUVA and bexarotene is a safe and effective treatment for MF. It will be necessary to await the results of the clinical trials currently underway to see if their combined use is better than treatment with PUVA alone. The response rate (RR) was 86 % (three FR and two PR out of six patients).

Tratamiento de micosis fungoide con PUVA más bexaroteno / Treatment of mycosis fungoides with PUVA and bexarotene

Introducción. La utilización conjunta de bexaroteno y psoraleno y radiación ultravioleta A (PUVA) en la actualidad es un tratamiento en investigación. En el presente trabajo se presentan 6 pacientes tratados con esta combinación. Objetivos. Valorar eficacia y seguridad del tratamiento con PUVA más bexaroteno en pacientes con micosis fungoide. Pacientes, material y métodos. Seis pacientes diagnosticados de micosis fungoide en distintos estadios que han recibido PUVA, tres sesiones semanales (inicio 2,35 J/cm 2, con aumentos progresivos hasta llegar a un máximo de 23,5 J/cm 2) más bexaroteno (dosis inicial, 300 mg/m 2/día, disminuyendo a 200, 150 o 75 mg/m 2 si aparecía toxicidad). Todos los pacientes recibieron atorvastatina. Resultados. Al inicio de tratamiento, 2 pacientes se encontraban en estadio IIb, un paciente en Ib con afectación hemática B2, 2 pacientes en Ib y un paciente en estadio Ia. Cinco de los 6 pacientes respondieron al tratamiento (tres remisiones completas [RC], dos remisiones parciales [RP]). Un paciente no respondió. De los que obtuvieron RC, el tiempo hasta la respuesta fue de 10, 20 y 24 semanas, respectivamente. Todos los pacientes presentaron hipertrigliceridemia (máximo de 1.194 mg/dl). En cuatro de los pacientes fue necesario administrar suplementos de hormona tiroidea. Dos de ellos tuvieron alteraciones de la bioquímica hepática y dos más presentaron alteraciones analíticas del perfil muscular. Conclusión. La combinación de PUVA y bexaroteno es un tratamiento eficaz y seguro para la micosis fungoide. Habrá que esperar a los resultados de los ensayos clínicos en curso para ver si es mejor su uso combinado que el tratamiento con PUVA sola. El índice de respuesta fue del 86 % (3 RC y 2 RP de 6 pacientes)

Introduction. The combined use of bexarotene and PUVA is a treatment that is currently being investigated. In this paper, six patients treated with this combination are presented. Objectives. To assess the efficacy and safety of treatment with PUVA + bexarotene in patients with mycosis fungoides (MF). Patients, material and methods. Six patients diagnosed with MF in different stages, who received three sessions of PUVA treatment a week (initially 2.35 J/cm 2, with progressive increases to a maximum of 23.5 J/cm 2) + bexarotene (initial dose 300 mg/m 2/day, decreasing to 200, 150 or 75 mg/m 2 if signs of toxicity appeared). All received atorvastatin. Results. Stage at the start of treatment: two patients IIb, one patient Ib with B2 blood involvement, two patients Ib, one patient Ia. Five of the six patients responded to the treatment (three full remissions [FR], two partial remissions [PR]). One patient did not respond. In those in whom FR was achieved, the time required for the response was 10, 20 and 24 weeks. All presented with hypertriglyceridemia (maximum 1194 mg/ dL). It was necessary to administer thyroid hormone supplements to four of the patients. Two of them had alterations in the hepatic biochemistry values, and two others presented with alterations in the muscle profile analysis. Conclusion. The combination of PUVA and bexarotene is a safe and effective treatment for MF. It will be necessary to await the results of the clinical trials currently underway to see if their combined use is better than treatment with PUVA alone. The response rate (RR) was 86 % (three FR and two PR out of six patients)

Sarcoidosis subcutánea como primera manifestación de enfermedad sistémica / Subcutaneous sarcoidosis as the first manifestation of systemic disease

Hasta en el 25 % de los pacientes con sarcoidosis existe sintomatología dermatológica y es rara la aparición de nódulos subcutáneos específicos como manifestación de esta entidad. Éstos pueden, incluso, anteceder a otras manifestaciones de sarcoidosis. Se presenta el caso de una mujer de 38 años de edad, con nódulos subcutáneos asintomáticos en miembros que correspondían a granulomas sarcoideos profundos en el estudio histológico. No presentaba otros datos extracutáneos. En las pruebas de imagen realizadas se encontraron adenopatías paratraqueales derechas. Con todo ello se llegó al diagnóstico de sarcoidosis, en su doble vertiente subcutánea y pulmonar (estadio I). La sarcoidosis subcutánea es probablemente una entidad infradiagnosticada, ya que existen menos de 40 casos recogidos en la literatura médica. Su valor estriba en que puede ser la primera manifestación de una sarcoidosis extracutánea o sistémica, por lo que se hace necesario considerar esta forma de sarcoidosis en el diagnóstico diferencial de las lesiones nodulares subcutáneas así como el seguimiento estrecho de estos pacientes

There are dermatological symptoms in up to 25 % of patients with sarcoidosis, and the appearance of specific subcutaneous nodules as a manifestation of this entity is rare. They may even predate other manifestations of sarcoidosis. We present the case of a 38-year-old woman with asymptomatic subcutaneous nodules in the limbs, which corresponded to deep sarcoid granulomas in the histological study. She did not present with any extracutaneous indications. The imaging tests performed revealed right paratracheal adenopathies. This led to the diagnosis of sarcoidosis, in both its subcutaneous and pulmonary forms (stage I). Subcutaneous sarcoidosis is probably an underdiagnosed entity, as fewer than 40 cases are reflected in literature. Its value lies in the fact that it may be the first manifestation of extracutaneous or systemic sarcoidosis, which means that this form of sarcoidosis must be considered in the differential diagnosis of subcutaneous nodular lesions; close follow-up of these patients is also necessary

[Acute myocardial ischemia and ventricular thrombus associated with pheochromocytoma]. / Isquemia miocárdica aguda y trombosis ventricular asociadas a feocromocitoma.

We describe a patient with a suprarenal pheochromocytoma that had a complex course with electrocardiographic findings characteristic of diffuse myocardial damage, normal findings on coronary angiography, and left intraventricular thrombus complicated by embolic stroke.

Isquemia miocárdica aguda y trombosis ventricular asociadas a feocromocitoma / Acute myocardial ischemia and ventricular thrombus associated with pheochromocytoma

Comunicamos el caso de un paciente con un feocromocitoma suprarrenal que cursó con una evolución clínica compleja, alteraciones electrocardiográficas propias de afección miocárdica difusa, con coronariografía normal y un trombo intraventricular izquierdo complicado con un ictus embólico (AU)

We describe a patient with a suprarenal pheochromocytoma that had a complex course with electrocardiographic findings characteristic of diffuse myocardial damage, normal findings on coronary angiography, and left intraventricular thrombus complicated by embolic stroke (AU)

[Subcutaneous sarcoidosis as the first manifestation of systemic disease]. / Sarcoidosis subcutánea como primera manifestación de enfermedad sistémica.

There are dermatological symptoms in up to 25% of patients with sarcoidosis, and the appearance of specific subcutaneous nodules as a manifestation of this entity is rare. They may even predate other manifestations of sarcoidosis. We present the case of a 38-year-old woman with asymptomatic subcutaneous nodules in the limbs, which corresponded to deep sarcoid granulomas in the histological study. She did not present with any extracutaneous indications. The imaging tests performed revealed right paratracheal adenopathies. This led to the diagnosis of sarcoidosis, in both its subcutaneous and pulmonary forms (stage I). Subcutaneous sarcoidosis is probably an underdiagnosed entity, as fewer than 40 cases are reflected in literature. Its value lies in the fact that it may be the first manifestation of extracutaneous or systemic sarcoidosis, which means that this form of sarcoidosis must be considered in the differential diagnosis of subcutaneous nodular lesions; close follow-up of these patients is also necessary.

Dermatitis perioral granulomatosa infantil / Childhood granulomatous perioral dermatitis

La dermatitis perioral granulomatosa infantil es una variante clinicopatológica de la dermatitis perioral clásica, de la que se han referido menos de 100 casos, la mayoría en pacientes pediátricos de raza negra. Se caracteriza por la presencia de granulomas tuberculoides sin necrosis central de localización perifolicular o parafolicular en el estudio histológico. Generalmente se trata de un proceso autoinvolutivo, con escasa respuesta a los tratamientos convencionales. Se presenta el caso de una niña de 7 años, de raza blanca, con lesiones peribucales, perinasales y oculares asintomáticas de varios meses de evolución. La anatomía patológica de una de estas lesiones revelaba la presencia de granulomas tuberculoides parafoliculares. El curso fue oscilante, con remisiones parciales y empeoramientos espontáneos sin aparente relación con el tratamiento (AU)