Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants.

Melanoma results from a complex interplay between environmental factors and individual genetic susceptibility. Familial melanoma is attributable to predisposition genes with variable penetrance. The aim of this study was to identify differences between familial melanoma and sporadic cases in our population, based on the presence of CDKN2A mutations and MC1R variants. Comparing 107 patients with familial melanoma from 87 families (17% CDKN2A mutated) with 1,390 cases of sporadic melanomas, the former were younger and exhibited an increased prevalence of atypical naevi and squamous cell carcinoma (SCC). CDKN2A mutation carriers presented more atypical naevi, multiple melanomas, and basal cell carcinoma, while non-carriers were more likely to have light-coloured hair, atypical naevi, and SCC. MC1R variants decreased the age at diagnosis in all groups and were associated with an increased prevalence of SCC, especially in patients with familial melanoma without CDKN2A mutations. These characteristics may help to establish prevention measures targeting patients with familial melanoma in the Mediterranean area.

Extramedullary hematopoiesis within endothelial papillary hyperplasia (Masson's pseudoangiosarcoma) of the tongue.

We report the unique association of Masson's pseudoangiosarcoma (endothelial papillary hyperplasia) and extramedullary hematopoiesis. The lesion was present as a violaceous nodule on the side of the tongue of a 78-year-old man with history of multiple myeloma and long-standing mild anemia. This association between a peculiar form of thrombus organization and extramedullary hematopoiesis has been reported previously only once, in an infant with a cranial hematoma, and raises interesting pathogenetic questions.

Extramedullary hematopoiesis within endothelial papillary hyperplasia (Masson’s pseudoangiosarcoma) of the tongue

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We report the unique association of Masson’s pseudoangiosarcoma (endothelial papillary hyperplasia) and extramedullary hematopoiesis. The lesion was present as a violaceous nodule on the side of the tongue of a 78-year-old man with history of multiple myeloma and long-standing mild anemia. This association between a peculiar form of thrombusorganization and extramedullary hematopoiesis has been reported previously only once, in an infant with a cranial hematoma, and raises interesting pathogenetic questions (AU)

Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003) II. Análisis de las referencias bibliográficas / Bibliometric study of the journal Actas Dermo-Sifiliográficas(1984-2003) II. Analysis of bibliographical references

Objetivo. Cuantificar el número de referencias de cada uno de los artículos publicados en los números ordinarios de la revista Actas Dermo-Sifiliográficas (AD) durante el periodo 1984-2003 y calcular el índice de referencias para cada uno de estos años. Estudiar el consumo de la información por parte de los autores de los documentos publicados en AD mediante el análisis de todas las referencias bibliográficas emitidas por los artículos publicados en los años 1984, 1993 y 2003. Material y métodos. Se revisó manualmente el número de referencias para cada uno de los artículos científicos publicados en los números ordinarios de la revista entre 1984 y 2003. Para los años 1984, 1993 y 2003 se analizó el género documental, idioma, país de origen y antigüedad de las referencias. Resultados. Los 2.604 artículos publicados en la revista AD entre los años 1984 y 2003 proporcionaron 56.144 referencias. La media de referencias por artículo para todo el periodo fue de 21,56 ± 21,2. El tipo de documento con mayor índice de referencias fue la revisión (67,06 ± 59,9), seguido de los trabajos originales (24,76 ± 19) y los casos clínicos (17,95 ± 9,7). El principal género documental de las referencias en los 3 años del estudio fue el artículo de revista, que pasó del 84,8 % en 1984 al 95,4 % en 2003. Las citas a libros, por el contrario, disminuyeron desde el 10,6 % en el primer periodo al 3,3 % en el último (p < 0,001). Estados Unidos fue el país de origen de gran parte de las referencias recogidas para los 3 años del estudio (55,4 %). De lejos le siguieron Reino Unido (15,7 %) y España (9 %). El inglés fue el idioma en el que estaban escritas la mayoría de las referencias de los tres periodos, que pasaron del 72,9 % en 1984 al 87,5 % en 2003. El español fue el segundo idioma más empleado por las referencias (9,1 %), contrariamente a lo esperado, su utilización disminuyó a lo largo de los tres periodos. Las principales revistas citadas por los autores de AD fueron las norteamericanas Archives of Dermatology (12,3 %) y Journal of the American Academy of Dermatology (10,3 %). AD recibió un porcentaje de autocitación del 4 %, fue la cuarta revista más citada después de la revista británica British Journal of Dermatology (7,4 %). Conclusiones. Los dermatólogos españoles se documentan esencialmente en la bibliografía anglosajona, utilizan información actualizada contenida en su mayoría en publicaciones periódicas y un porcentaje importante de la información se encuentra en un grupo reducido de revistas que coinciden con las de mayor impacto internacional para nuestra especialidad

Objective: To quantify the number of references for each of the articles published in the regular issues of the journal Actas Dermo-Sifiliográficas (AD) between 1984 and 2003, and to calculate the average number of references for each of these years. To study the consumption of information by the authors of documents published in AD through the analysis of all of the bibliographical references listed in the articles published in 1984, 1993 and 2003. Material and methods: The number of references for each of the scientific articles published in the regular issues of the journal Actas Dermo-Sifiliográficas between 1984 and 2003 was reviewed manually. For the years 1984, 1993 and 2003, the type of document, language, country of origin and age of the references were analyzed. Results: The 2,604 articles published in the journal AD between 1984 and 2003 provided 56,144 references. The average number of references per article for the entire period was 21.56 ± 21.2. The type of document with the most references was the review (67.06 ± 59.9), followed by original works (24.76 ± 19) and clinical cases (17.95 ± 9.7). The primary type of document for references in the three years studied was the review article, which went from 84.8 % in 1984 to 95.4 % in 2003. References to books, on the other hand, dropped from 10.6 % in the first year to 3.3 % in the last one (p < 0.001). The United States was the country of origin of a large part of the references reflected in the three years studied (55.4 %). Following at a great distance were the United Kingdom (15.7 %) and Spain (9 %). English was the language in which most of the references were written in the three years studied, increasing from 72.9 % in 1984 to 87.5 % in 2003. Spanish was the second most used language in the references (9.1 %); contrary to what was expected, its use decreased over the three years. The main journals referenced by the authors published in AD were the American publications Archives of Dermatology (12.3 %) and Journal of the American Academy of Dermatology (10.3 %). References to AD itself accounted for 4 % of the total; it was the fourth most referenced journal after the British Journal of Dermatology (7.4 %). Conclusions: Spanish dermatologists primarily use English-language publications for their research. They mostly obtain current information from periodicals, with a significant percentage of the information being found in a small group of journals, which are the ones with the greatest international impact for our field of specialization

Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003) III. Análisis de los indicadores de repercusión / Bibliometric study of Actas Dermo-sifiliográficas (1984-2003) III. Analysis of bibliographic impact factors

Objetivo. Calcular el factor de impacto de la revista Actas Dermo-Sifiliográficas (AD) para los periodos 1986-1990 y 1999-2003 y analizar el patrón de citación de la revista para esos años. Material y métodos. Se recopilaron las citas recibidas entre los años 1985-1990 y entre 1998-2003 por los artículos publicados en la revista AD en los quinquenios 1984-1989 y 1997-2002 mediante una búsqueda en la base de datos del Science Citation Index Expanded (SCI). Resultados. La revista AD consiguió duplicar el número de citas emitidas por las revistas fuente del SCI en el segundo periodo del estudio. Se pasó de 38 citas recogidas entre 1985 y 1990 a 76 citas obtenidas entre 1998 y 2003. El mayor número de citas se tradujo en un aumento del factor de impacto, que pasó de 0,016 en 1986 a 0,040 en 2003. En las dos etapas se observó una amplia distribución de revistas citadoras, que en su mayoría eran revistas extranjeras de la especialidad. Destacaron en el segundo periodo la revista holandesa Journal of the European Academy of Dermatology and Venerelogy (13 citas) y la estadounidense Journal of the American Academy of Dermatology (12 citas). A diferencia de lo que ocurrió entre 1985 y 1990, en que no había ninguna revista española citadora de AD, en el segundo periodo fueron 4 las revistas que citaron a AD en sus documentos; Revista clínica española (6 citas), Archivos de bronconeumología (4 citas), Medicina clínica (3 citas) y la revista Enfermedades infecciosas y microbiología clínica (una cita). La mayoría de citas recibidas por AD provenían de autores españoles, y se pasó del 63,2 % entre 1985 y 1990 al 81,6 % entre 1998 y 2003. El índice de autocitas ascendió del 10,5 % en el primer periodo al 31,6 % en el segundo. Conclusiones. El factor de impacto obtenido por AD no es comparable con el de las grandes revistas incluidas en el campo Dermatology & Venereal Diseases del SCI y confirma la escasa citación de AD por las revistas fuente de este repertorio. Sin embargo, el aumento de este índice en los últimos años se traduce en una mayor presencia española en el SCI debida a un aumento de publicaciones de autores españoles en revistas internacionales y a la inclusión de revistas nacionales en dicha base de datos

Objective: To quantify the impact factor of the journal Actas Dermo-Sifiliográficas (AD) from 1986 to 1990 and from 1999 to 2003 and to identify the journal's citation pattern in those years. Material and methods: Citations obtained by AD in the periods from 1985-1990 and 1998-2003 for articles published from 1984 to 1989 and from 1997 to 2002 were collected using Science Citation Index Expanded (SCI). Results: The number of times AD was cited doubled during the second period, increasing from 38 (period from 1985-1990) to 76 (period from 1998-2003). Considering the number of citations, AD's impact factor increased from 0.016 in 1986 to 0.040 in 2003. In both periods, citations corresponding to AD articles were included in a wide range of source journals, mainly dermatological publications abroad. The most referred journals in the second period were the Dutch publication Journal of the European Academy of Dermatology and Venereology (13 citations) and the Journal of the American Academy of Dermatology (12 citations). Unlike the period from 1985 to 1990 when no Spanish journal cited AD, four Spanish publications mentioned AD in the second period: Revista clínica española (6 citations), Archivos de bronconeumología (4 citations), Medicina clínica (3 citations) and the journal Enfermedades infecciosas y microbiología clínica (1 citation). Citations mainly corresponded to articles published by Spanish authors (63.2 % in the 1985-1990 period and 81.6 % in the period from 1998 to 2003). Self-citation increased from 10.5 % (first period) to 31.6 % (second period). Conclusion: The impact factor of AD is low and not comparable to other publications included in the Dermatology & Venereal Diseases field from SCI. Our results confirm the low citation rate of AD by source journals in this repertory. However, the increase of this rate in recent years seems to indicate a higher Spanish presence in SCI due to an increasing number of publications corresponding to Spanish authors in international journals and the inclusion of some Spanish journals in this database

Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003). Análisis de la producción (I) / Bibliometric study of the journal Actas Dermo-Sifiliográficas (1984-2003). I. Production analysis

Objetivo. Analizar los artículos científicos publicados en actas Dermo-Sifiliográficas (AD) entre 1984 y 2003. Los principales parámetros bibliométricos analizados han sido: número de artículos, extensión y tipología documental, áreas temáticas fundamentales, autoría de los documentos, principales centros productores, áreas departamentales y distribución geográfica de los artículos. Material y métodos. Se revisaron manualmente todos los artículos científicos publicados en los números ordinarios de la revista AD entre 1984 y 2003 (dos décadas), lo que corresponde a los volúmenes 75 a 94. Resultados. En el periodo de estudio se publicaron en la revista AD un total de 2.604 artículos, con una media anual de 130. El caso clínico o nota clínica fue el principal tipo documental (66,2 %), seguido de los artículos originales (23,5 %) y los artículos de revisión (4,7 %). La extensión de los documentos varió entre 1 y 33 páginas, con una media de 4,55 páginas. Las cuestiones más abordadas en los documentos del periodo fueron dermatopatología (15,9 %) y tratamiento (15,4 %). Se contabilizó un total de 11.667 autorías, y el número de autores distintos fue de 2.907. El índice de colaboración medio del periodo se situó en el 4,48. Un 56,7 % de autores lo fue de forma ocasional (firmó un único documento), mientras a un 3,5 % se les consideró máximos productores por haber firmado 20 o más trabajos a lo largo del periodo. Siete comunidades autónomas concentraron el 85,5 % de la producción. La comunidad de Madrid fue, con diferencia, la gran productora (917 documentos; 35,2 %), seguida de Andalucía (422; 16,2 %), Cataluña (240; 9,2 %) y Castilla y León (221; 8,5 %). Un total de 293 centros distintos firmaron los 2.604 documentos del estudio y dieron lugar a 2.977 colaboraciones. La mayoría de estas colaboraciones pertenecían a grandes hospitales o complejos hospitalarios entre los que destacaron los madrileños Hospital 12 de Octubre (281 colaboraciones) y Hospital Clínico San Carlos (153), así como el Hospital Universitario San Cecilio de Granada (149). La dermatología fue la especialidad que firmó un mayor número de documentos (90,8 % como primer firmante). La gran colaboradora de la dermatología fue la anatomía patológica que participó en un 28,5 % de artículos. Conclusiones. El análisis de la productividad de la revista AD durante dos décadas permite aproximarnos a la actividad científica dermatológica nacional dada la importancia cuantitativa y cualitativa de la revista en el contexto de la dermatología española

Objective. Analyze the scientific articles published in Actas Dermo-Sifiliográficas (AD) between 1984 and 2003. The main bibliometric parameters analyzed were: number of articles, their length and type, primary subject areas, authorship of the documents, main contributing centers, departmental areas and geographic distribution of the articles. Material and methods. All of the scientific articles published in the regular issues of the journal Actas Dermo-Sifiliográficas between 1984 and 2003 (two decades), corresponding to volumes 75 to 94, were reviewed manually. Results. A total of 2,604 articles were published in the journal AD during the period studied, with a yearly average of 130 articles. Clinical cases or notes were the main type of document (66.2 %), followed by original articles (23.5 %) and review articles (4.7 %). The length of the documents varied from 1 to 33 pages, with an average of 4.55 pages. The subjects that were most discussed in the documents from this period were dermatopathology (15.9 %) and therapeutics (15.4 %). A total of 11,667 authorships were found, with 2,907 different authors. The average number of authors per article for the period was 4.48. 56.7 % of the authors were occasional contributors (having signed a single document), while 3.5 % were top contributors, having signed 20 or more works over this period. Seven Autonomous Communities accounted for 85.5 % of the articles. The Community of Madrid was by far the largest contributor (917 documents, 35.2 %), followed by Andalusia (422, 16.2 %), Catalonia (240, 9.2 %) and Castile-León (221, 8.5 %). The 2,604 documents in the study were from 293 different centers, which accounted for 2,977 co-authorships. Most of these co-authorships were from large hospitals or hospital complexes. The most noteworthy of these were the Madrid hospitals 12 de Octubre (281 co-authorships) and Clínico San Carlos (153), and Hospital Universitario San Cecilio in Granada (149). Dermatology was the specialty of most of the authors (90.8 % of those authors listed first). The main specialty collaborating with dermatology was pathology, taking part in 28.5 % of the articles. Conclusions. An analysis of the productivity of the journal AD over two decades gives us an idea of scientific activity in dermatology in Spain, because of the journal's quantitative and qualitative significance in the context of Spanish dermatology

[Bibliometric study of the journal Actas Dermo-Sifiliográficas (1984-2003). I. Production analysis]. / Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003). Análisis de la producción (I).

OBJECTIVE: Analyze the scientific articles published in Actas Dermo-Sifiliográficas (AD) between 1984 and 2003. The main bibliometric parameters analyzed were: number of articles, their length and type, primary subject areas, authorship of the documents, main contributing centers, departmental areas and geographic distribution of the articles. MATERIAL AND METHODS: All of the scientific articles published in the regular issues of the journal Actas Dermo-Sifiliográficas between 1984 and 2003 (two decades), corresponding to volumes 75 to 94, were reviewed manually. RESULTS: A total of 2,604 articles were published in the journal AD during the period studied, with a yearly average of 130 articles. Clinical cases or notes were the main type of document (66.2 %), followed by original articles (23.5 %) and review articles (4.7 %). The length of the documents varied from 1 to 33 pages, with an average of 4.55 pages. The subjects that were most discussed in the documents from this period were dermatopathology (15.9 %) and therapeutics (15.4 %). A total of 11,667 authorships were found, with 2,907 different authors. The average number of authors per article for the period was 4.48. 56.7 % of the authors were occasional contributors (having signed a single document), while 3.5 % were top contributors, having signed 20 or more works over this period. Seven Autonomous Communities accounted for 85.5 % of the articles. The Community of Madrid was by far the largest contributor (917 documents, 35.2 %), followed by Andalusia (422, 16.2 %), Catalonia (240, 9.2 %) and Castile-León (221, 8.5 %). The 2,604 documents in the study were from 293 different centers, which accounted for 2,977 co-authorships. Most of these co-authorships were from large hospitals or hospital complexes. The most noteworthy of these were the Madrid hospitals 12 de Octubre (281 co-authorships) and Clínico San Carlos (153), and Hospital Universitario San Cecilio in Granada (149). Dermatology was the specialty of most of the authors (90.8 % of those authors listed first). The main specialty collaborating with dermatology was pathology, taking part in 28.5 % of the articles. CONCLUSIONS: An analysis of the productivity of the journal AD over two decades gives us an idea of scientific activity in dermatology in Spain, because of the journal's quantitative and qualitative significance in the context of Spanish dermatology.

[Bibliometric study of Actas Dermo-sifiliográficas (1984-2003) III. Analysis of bibliographic impact factors]. / Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003) III. Análisis de los indicadores de repercusión.

OBJECTIVE: To quantify the impact factor of the journal Actas Dermo-Sifiliográficas (AD) from 1986 to 1990 and from 1999 to 2003 and to identify the journal's citation pattern in those years. MATERIAL AND METHODS: Citations obtained by AD in the periods from 1985-1990 and 1998-2003 for articles published from 1984 to 1989 and from 1997 to 2002 were collected using Science Citation Index Expanded (SCI). RESULTS: The number of times AD was cited doubled during the second period, increasing from 38 (period from 1985-1990) to 76 (period from 1998-2003). Considering the number of citations, AD's impact factor increased from 0.016 in 1986 to 0.040 in 2003. In both periods, citations corresponding to AD articles were included in a wide range of source journals, mainly dermatological publications abroad. The most referred journals in the second period were the Dutch publication Journal of the European Academy of Dermatology and Venereology (13 citations) and the Journal of the American Academy of Dermatology (12 citations). Unlike the period from 1985 to 1990 when no Spanish journal cited AD, four Spanish publications mentioned AD in the second period: Revista clínica española (6 citations), Archivos de bronconeumología (4 citations), Medicina clínica (3 citations) and the journal Enfermedades infecciosas y microbiología clínica (1 citation). Citations mainly corresponded to articles published by Spanish authors (63.2 % in the 1985-1990 period and 81.6 % in the period from 1998 to 2003). Self-citation increased from 10.5 % (first period) to 31.6 % (second period). CONCLUSION: The impact factor of AD is low and not comparable to other publications included in the Dermatology and Venereal Diseases field from SCI. Our results confirm the low citation rate of AD by source journals in this repertory. However, the increase of this rate in recent years seems to indicate a higher Spanish presence in SCI due to an increasing number of publications corresponding to Spanish authors in international journals and the inclusion of some Spanish journals in this database.

[Bibliometric study of the journal Actas Dermo-Sifiliográficas(1984-2003) II. Analysis of bibliographical references]. / Estudio bibliométrico de la revista Actas Dermo-Sifiliográficas (1984-2003) II. Análisis de las referencias bibliográficas.

OBJECTIVE: To quantify the number of references for each of the articles published in the regular issues of the journal Actas Dermo-Sifiliográficas (AD) between 1984 and 2003, and to calculate the average number of references for each of these years. To study the consumption of information by the authors of documents published in AD through the analysis of all of the bibliographical references listed in the articles published in 1984, 1993 and 2003. MATERIAL AND METHODS: The number of references for each of the scientific articles published in the regular issues of the journal Actas Dermo-Sifiliográficas between 1984 and 2003 was reviewed manually. For the years 1984, 1993 and 2003, the type of document, language, country of origin and age of the references were analyzed. RESULTS: The 2,604 articles published in the journal AD between 1984 and 2003 provided 56,144 references. The average number of references per article for the entire period was 21.56 +/- 21.2. The type of document with the most references was the review (67.06 +/- 59.9), followed by original works (24.76 +/- 19) and clinical cases (17.95 +/- 9.7). The primary type of document for references in the three years studied was the review article, which went from 84.8 % in 1984 to 95.4 % in 2003. References to books, on the other hand, dropped from 10.6 % in the first year to 3.3 % in the last one (p < 0.001). The United States was the country of origin of a large part of the references reflected in the three years studied (55.4 %). Following at a great distance were the United Kingdom (15.7 %) and Spain (9 %). English was the language in which most of the references were written in the three years studied, increasing from 72.9 % in 1984 to 87.5 % in 2003. Spanish was the second most used language in the references (9.1 %); contrary to what was expected, its use decreased over the three years. The main journals referenced by the authors published in AD were the American publications Archives of Dermatology (12.3 %) and Journal of the American Academy of Dermatology (10.3 %). References to AD itself accounted for 4 % of the total; it was the fourth most referenced journal after the British Journal of Dermatology (7.4 %). CONCLUSIONS: Spanish dermatologists primarily use English-language publications for their research. They mostly obtain current information from periodicals, with a significant percentage of the information being found in a small group of journals, which are the ones with the greatest international impact for our field of specialization.

Dermatomiositis ampollosa asociada a enfermedad de Crohn / Bullous dermatomyositis associated with Crohn'disease

Presentamos una mujer de 46 años ingresada por disfagia, pérdida de fuerza, y erupción cutánea papuloeritematosa con formación de vesículas y ampollas. La determinación de enzimas musculares y el electromiograma confirmaron el diagnóstico de dermatomiositis. Ninguna de las exploraciones complementarias realizadas logró evidenciar la asociación de una neoplasia interna. Dos meses más tarde la paciente presenta un cuadro de rectorragia, dolor abdominal y fiebre. Se practicó colonoscopia y biopsia colóníca que fueron compatibles con una enfermedad de Crohn. Se presenta el caso y se revisa la formación de lesiones vesiculares en el curso de una dermatomiositis así como su asociación a enfermedad inflamatoria intestinal (AU)

Un caso de síndrome de Carney / A Case of Carney Complex

El síndrome de Carney es una enfermedad multisistémica, de transmisión autosómica dominante, caracterizada por la asociación de múltiples neoplasias, que incluyen el mixoma de varias localizaciones (cardíaco, cutáneo, mamario), manchas pigmentadas cutáneas, hiperactividad endocrina (síndrome de Cushing, acromegalia), tumores testiculares y schwannomas. Este trabajo recoge el caso de una mujer de 43 años que presentaba criterios diagnósticos de esta asociación que se inició con un infarto agudo de miocardio inferior, probablemente secundario a una embolización del mixoma auricular. A partir de este raro caso se realiza una breve revisión del síndrome de Carney, en el que el cribado familiar representa un punto esencial (AU)

No disponible

Albinismo tirosinasa positivo asociado a transtorno de la agregación plaquetaria / Tyrosinase positive albinism associated with platelet aggregation disorders

Los autores estudian un caso de albinismo tirosinasa positivo con trastorno de la agregación plaquetaria. No se pudo comprobar la existencia de material ceroide en los macrófagos de la médula ósea. Pensamos, sin embargo que se trataba de una variente del síndrome de Hermansky-Pudlak, equiparable a un caso similar publicado en la literatura

Albinismo tirosinasa positivo asociado a transtorno de la agregación plaquetaria / Tyrosinase positive albinism associated with platelet aggregation disorders

Los autores estudian un caso de albinismo tirosinasa positivo con trastorno de la agregación plaquetaria. No se pudo comprobar la existencia de material ceroide en los macrófagos de la médula ósea. Pensamos, sin embargo que se trataba de una variente del síndrome de Hermansky-Pudlak, equiparable a un caso similar publicado en la literatura (AU)