Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

BACKGROUND: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. MAIN OBSERVATIONS: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. CONCLUSIONS: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".

The Amplifier - v. 17, no. 3

In this issue...ASARCO, East Helena, Spurettes, Main Hall, G I Bill, FM Radio, Marcus Daly, Library, Computer Center, Free Films, Copper Bowl Poll, Volleyball

2222+2015=110

2222 é a Resolução que o Conselho de Segurança das Nações Unidas adoptou em 27/5/15. 7450 reunião. A Carta das Nações Unidas de 1945 visa a paz internacional, prevenção e resolução dos conflitos. A protecção dos jornalistas e colaboradores é um desiderato que vem sendo reafirmado desde a Resolução 1265, 1999. § 2222 is the Resolution adopted by the United Nations Security Council on 5/27/15. 7450 meeting. The 1945 United Nations Charter aims at international peace, conflict prevention and resolution. The protection of journalists and employees has been reaffirmed since Resolution 1265, 1999.

Análisis de la relación bilateral colombo – estadounidense en materia de seguridad y defensa durante el periodo 2002 – 2014, y su incidencia en la diversificación de la política exterior colombiana.

El interés de esta monografía es analizar la transformación de relación bilateral colombo – estadounidense en materia de seguridad y defensa durante el periodo 2002 – 2014, y cómo dicha transformación puede incidir en la formulación de la política exterior colombiana. Se analizará la política exterior de Álvaro Uribe Vélez y la del actual presidente Juan Manuel Santos. Esto se llevará a cabo bajo dos de las teorías de Relaciones Internacionales, el realismo subalterno y neoclásico, las cuales ayudarán a entender el porqué del cambio de la política exterior de colombiana.