Placas eritematovioláceas en extremidades de paciente con artritis reumatoide y cáncer de colon / Erythematous-Violaceous Plaques on the Limbs of a Patient With Rheumatoid Arthritis and Colon Cancer

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Phenotypic and histologic characteristics of cutaneous melanoma in patients with melanocortin-1 receptor polymorphisms.

BACKGROUND: The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure. OBJECTIVES: To analyze the phenotypic and histologic characteristics of cutaneous melanoma in patients carrying mutations in MC1R and assess the influence of sun exposure on the occurrence of melanoma. MATERIAL AND METHODS: A total of 224 patients with a diagnosis of melanoma seen in the Department of Dermatology at Hospital General Universitario Gregorio Marañón in Madrid, Spain between September 2004 and December 2009 were included in the study. The genomic sequence of MC1R was analyzed by polymerase chain reaction. RESULTS: At least one of the following MC1R variants was present in 58% of the patients: V60L, V92M, I155T, R160W, D294H, and R163Q. Carriers of those variants had a history of sunburn (P=.018) and melanomas located on areas with intermittent sun exposure (P=.019), and the majority had a diagnosis of superficial spreading melanoma. These associations were especially significant in patients with the R160W and D294H variants. Carriers of R160W also had melanomas associated with melanocytic nevi (P=.028). CONCLUSIONS: The results of our study suggest that there may be a relationship between the expression of certain MC1R variants and sun exposure, history of sunburn, and skin type. They also indicate a higher frequency of superficial spreading melanomas and melanomas associated with melanocytic nevi in patients carrying certain mutations in MC1R.

Características fenotípicas e histológicas de los pacientes con melanoma cutáneo en función de los polimorfismos del MC1R / Phenotypic and Histologic Characteristics of Cutaneous Melanoma in Patients With Melanocortin-1 Receptor Polymorphisms

Introducción: El receptor de la melanocortina-1 (MC1R) es un importante determinante del riesgo de melanoma debido a su función en la producción de melanina en respuesta a la exposición solar. Objetivos: Analizar las características fenotípicas e histológicas de los pacientes con melanoma cutáneo portadores de mutaciones del MC1R asociadas a riesgo de melanoma y la influencia de la exposición solar en la aparición del melanoma. Material y métodos: Se incluyeron 224 pacientes diagnosticados de melanoma atendidos en el Servicio de Dermatología del Hospital General Universitario Gregorio Marañón (septiembre de 2004 -diciembre de 2009). Se realizó la secuenciación genómica del ADN del MC1R mediante PCR. Resultados: El 58% presentaba al menos una de las siguientes variantes de MC1R (V60L, V92M, I155T, R160W, D294H, R163Q). Estos pacientes presentaban antecedentes de quemaduras solares (p=0,018), melanomas localizados en áreas de exposición solar intermitente (p=0,019), con predominio del tipo histológico de extensión superficial. Estas asociaciones fueron especialmente significativas en los portadores de las variantes R160W y D294H. Los portadores de R160W presentaron además melanomas asociados a nevus melanocíticos (p=0,028). Conclusión: Los resultados obtenidos sugieren que puede existir una relación entre la expresión de determinadas variantes de MC1R y los hábitos de exposición solar, antecedentes de quemadura y tipo de piel del paciente, así como una mayor frecuencia de melanomas de extensión superficial y melanomas asociados a nevus en portadores de ciertas mutaciones de MC1R (AU)

Background: The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure. Objectives: To analyze the phenotypic and histologic characteristics of cutaneous melanoma in patients carrying mutations in MC1R and assess the influence of sun exposure on the occurrence of melanoma. Material and methods: A total of 224 patients with a diagnosis of melanoma seen in the Department of Dermatology at Hospital General Universitario Gregorio Marañón in Madrid, Spain between September 2004 and December 2009 were included in the study. The genomic sequence of MC1R was analyzed by polymerase chain reaction. Results: At least one of the following MC1R variants was present in 58% of the patients: V60L, V92M, I155T, R160W, D294H, and R163Q. Carriers of those variants had a history of sunburn (P=.018) and melanomas located on areas with intermittent sun exposure (P=0.019), and the majority had a diagnosis of superficial spreading melanoma. These associations were especially significant in patients with the R160W and D294H variants. Carriers of R160W also had melanomas associated with melanocytic nevi (P=0.028). Conclusions: The results of our study suggest that there may be a relationship between the expression of certain MC1R variants and sun exposure, history of sunburn, and skin type. They also indicate a higher frequency of superficial spreading melanomas and melanomas associated with melanocytic nevi in patients carrying certain mutations in MC1R (AU)

[Phenotypic and histologic characteristics of cutaneous melanoma in patients with melanocortin-1 receptor polymorphisms]. / Características fenotípicas e histológicas de los pacientes con melanoma cutáneo en función de los polimorfismos del MC1R.

BACKGROUND: The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure. OBJECTIVES: To analyze the phenotypic and histologic characteristics of cutaneous melanoma in patients carrying mutations in MC1R and assess the influence of sun exposure on the occurrence of melanoma. MATERIAL AND METHODS: A total of 224 patients with a diagnosis of melanoma seen in the Department of Dermatology at Hospital General Universitario Gregorio Marañón in Madrid, Spain between September 2004 and December 2009 were included in the study. The genomic sequence of MC1R was analyzed by polymerase chain reaction. RESULTS: At least one of the following MC1R variants was present in 58% of the patients: V60L, V92M, I155T, R160W, D294H, and R163Q. Carriers of those variants had a history of sunburn (P=.018) and melanomas located on areas with intermittent sun exposure (P=.019), and the majority had a diagnosis of superficial spreading melanoma. These associations were especially significant in patients with the R160W and D294H variants. Carriers of R160W also had melanomas associated with melanocytic nevi (P=.028). CONCLUSIONS: The results of our study suggest that there may be a relationship between the expression of certain MC1R variants and sun exposure, history of sunburn, and skin type. They also indicate a higher frequency of superficial spreading melanomas and melanomas associated with melanocytic nevi in patients carrying certain mutations in MC1R.

[Diagnostic utility of dermoscopy in pigmented actinic keratosis]. / Utilidad de la dermatoscopia en el diagnóstico de las queratosis actínicas pigmentadas.

The diagnosis of pigmented actinic keratosis can be complicated in clinical practice. The differential diagnosis with lentigo maligna melanoma can be difficult due to common clinical and dermoscopic characteristics. We present 5 cases of pigmented actinic keratosis in 4 patients. The most common dermoscopic finding was a grayish-brown granulation with a perifollicular distribution, present in all lesions, followed by rhomboidal structures in 4 cases, and an annular-granular pattern in 3. In no case were asymmetrical pigmented follicular openings observed. We draw attention to key findings that aid preoperative diagnosis of pigmented actinic keratosis.

SLC45A2: a novel malignant melanoma-associated gene.

Human pigmentation appears to be one of the strongest risk factors for malignant melanoma (MM). In humans, there is a long list of genes known to be involved in rare pigmentary disorders such as albinism. These genes explain most of the variation in pigmentation phenotypes seen in human populations, and they do this by regulating the level of synthesis, chemical composition, packaging, and distribution of melanin. This Spanish case-control study included 131 consecutive melanoma patients and 245 control subjects frequency-matched for sex and age. A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped. We found that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing). This association was validated by the consistent link observed with dark hair, dark skin, dark eye color, and the presence of solar lentigins and childhood sunburns. This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.

[Intravenous immunoglobulin therapy: ELISA measurement of antidesmogleins 1 and 3 in three patients with pemphigus vulgaris]. / Terapia con inmunoglobulinas intravenosas: medición seriada mediante ELISA de anticuerpos antidesmogleína 1 y 3 en tres pacientes con pénfigo vulgar.

Intravenous immunoglobulin therapy (IVIg) has been used in the treatment of autoimmune bullous diseases unresponsive to conventional therapy in recent years. The action mechanism, which is not well known, suggests a wide spectrum of immunoregulation. In the last five years, several studies on patients with unresponsive pemphigus vulgaris with a clinical and serological outcome after IVIg administration in 80%-90% of cases have been published. We report the case of 3 patients with pemphigus vulgaris in whom we measured autoantibody titers to desmoglein 3 and 1 during 8 months. In spite of the clinical improvement, no significant decrease in antibody concentration was observed. Therapy with IVIg, although it has clinical benefit, did not decrease antibody values in our patients and thus it may need to be combined with immunosuppressant that inhibit pathogen antibody production.

Terapia con inmunoglobulinas intravenosas: medición seriada mediante ELISA de anticuerpos antidesmogleína 1 y 3 en tres pacientes con pénfigo vulgar / Intravenous immunoglobulin therapy: ELISA measurement of antidesmogleins 1 and 3 in three patients with pemphigus vulgaris

La terapia con inmunoglobulinas intravenosas (IgIV) es utilizada en los últimos años en pacientes con enfermedades ampollosas autoinmunes resistentes a la terapia convencional. Su mecanismo de acción, no bien conocido, supone un amplio espectro de inmunorregulación. En los últimos 5 años se han publicado varios trabajos en pacientes con pénfigo vulgar resistente con un beneficio clínico y serológico en el 80%-90% de los casos. Presentamos 3 casos de pénfigo vulgar con determinación seriada mediante la técnica de ELISA de anticuerpos antidesmogleína 1 y 3 (AcDsG1 y AcDsG3) durante un período de 8 meses en los que, a pesar de la mejoría clínica, no se objetivó disminución significativa en la concentración de anticuerpos. La terapia con IgIV, aun con beneficio clínico, no disminuyó en nuestros pacientes las cifras de anticuerpos y por ello debería quizá combinarse con inmunosupresores que inhiban la producción de anticuerpos patógenos

Intravenous immunoglobulin therapy (IVIg) has been used in the treatment of autoimmune bullous diseases unresponsive to conventional therapy in recent years. The action mechanism, which is not well known, suggests a wide spectrum of immunoregulation. In the last five years, several studies on patients with unresponsive pemphigus vulgaris with a clinical and serological outcome after IVIg administration in 80%-90% of cases have been published. We report the case of 3 patients with pemphigus vulgaris in whom we measured autoantibody titers to desmoglein 3 and 1 during 8 months. In spite of the clinical improvement, no significant decrease in antibody concentration was observed. Therapy with IVIg, although it has clinical benefit, did not decrease antibody values in our patients and thus it may need to be combined with immunosuppressant that inhibit pathogen antibody production

[Epidemiology and survival of cutaneous melanoma in Spain: a report of 552 cases (1994-2003)]. / Epidemiología y supervivencia del melanoma cutáneo en España: estudio de 552 casos (1994-2003).

Studies on epidemiology and survival of patients diagnosed of cutaneous melanoma in our country are few. We described epidemiological, clinical, histopathologic and survival characteristics of patients diagnosed of cutaneous melanoma at Hospital Gregorio Marañón of Madrid during ten years (1994-2003). The incidence of melanoma has doubled in the last decade. An important proportion of melanomas continues to be diagnosed in advanced stages (III-IV; 14.5%). The following factors were associated with a poor global survival: Tumor thickness, ulceration, nodular type, masculine gender and age older than 65.

Epidemiología y supervivencia del melanoma cutáneo en España: estudio de 552 casos (1994-2003) / Epidemiology and survival of cutaneous melanoma in Spain: a report of 552 cases (1994-2003)

Los trabajos sobre epidemiología y supervivencia de los pacientes diagnosticados de melanoma cutáneo en nuestro país son escasos. Se muestran las características epidemiológicas, clínicas, histopatológicas y pronósticas de 552 pacientes diagnosticados de melanoma cutáneo durante 10 años (1994-2003) en el Hospital Gregorio Marañón de Madrid. La incidencia de melanoma se ha duplicado durante la pasada década. Se sigue diagnosticando una importante proporción de melanomas en estadios avanzados (III-IV; 14,5%). Los factores que se asociaron con un peor pronóstico fueron el espesor tumoral, la presencia de ulceración, el tipo nodular, el sexo masculino y la edad superior a 65 años

Studies on epidemiology and survival of patients diagnosed of cutaneous melanoma in our country are few. We described epidemiological, clinical, histopathologic and survival characteristics of patients diagnosed of cutaneous melanoma at Hospital Gregorio Marañón of Madrid during ten years (1994-2003). The incidence of melanoma has doubled in the last decade. An important proportion of melanomas continues to be diagnosed in advanced stages (III-IV; 14.5%). The following factors were associated with a poor global survival: Tumor thickness, ulceration, nodular type, masculine gender and age older than 65

[Tetracaine-induced systemic contact-type dermatitis]. / Dermatitis sistémica de contacto por tetracaínas.

We report the case of a 71-year-old-man with dermatitis in the groin area. Forty-eight hours previously, he had undergone transurethral resection for benign prostatic hyperplasia. During the prostatectomy, the probe was lubricated with a urological ointment containing the topical anesthetic, tetracaine. The patient had previously experienced severe pruritus and fissures in the perianal area after using antihemorrhoidal ointments. Biopsy and patch testing with the standard series and lubricant ointment showed positive reactions to this lubricant, called "urological lubricant" (UL) (+ + +) with caine mix (+ + +). The patient was diagnosed with systemic contact-type dermatitis due to caine mix. The dermatitis improved with topical steroids and oral antihistamine agents.

Embarazo y piel

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