Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by the presence of three skin tumors (fibrofolliculomas, trichodiscomas, and acrochordons), together with an increased risk for other tumors, especially renal tumors, caused by a mutation in folliculin, an oncogene suppressor protein. The association of this syndrome with melanoma is very unusual. We report the case of a 54-year-old man with a history of melanoma who had multiple white facial papules. His son also presented similar facial lesions. Histopathologic study showed fibrofolliculomas. These clinical and histopathologic features suggested the diagnosis of BHDS. Genetic study revealed a novel heterozygous mutation p.S185P in exon 6 of the FLCN gene. To date, the association between melanoma and BHDS has rarely been described. As the pathogenic mechanism responsible for melanoma seems to be the same as that responsible for neoplasms in BHDS, the authors consider the melanoma a manifestation of BHDS. Thus, during the periodic follow-up of patients with BHDS, we recommend periodic exhaustive skin examination and excisional biopsy of any suspicious pigmented lesion.

[Revival of syphilis in Malaga]. / Reactivación de la sífilis en Málaga.

INTRODUCTION: In our milieu, syphilis has been truly rare in recent years, although it has never ceased to be present. However, we would like to draw attention to its recent revival, presenting with certain peculiarities. PATIENTS ADN METHODS: The characteristics of 12 cases of syphilis diagnosed in our dermatology department between June and December 2004 were studied. RESULTS: Only one of the 12 patients, whose ages ranged from 20 to 48, was female, and six were homosexual. Five of the latter and one heterosexual were also infected with the human immunodeficiency virus. Three patients were diagnosed in the primary stage, while the other nine showed alterations characteristic of the second stage, although five of them were not aware of having had chancres or adenopathies. Serology tests were key to the diagnosis, because of the great variety of clinical manifestations. All of the patients responded well to penicillin treatment. CONCLUSION: Luetic serology should be performed in patients with symptoms that suggest secondary syphilis, especially in homosexuals and those who are HIV positive.

Reactivación de la sífilis en Málaga / Revival of syphilis in Malaga

Introducción. En nuestro medio, la sífilis, aunque no ha dejado de presentarse en ningún momento, era realmente rara en los últimos años. Queremos, sin embargo, llamar la atención sobre su reciente reactivación con ciertas peculiaridades de presentación. Pacientes y métodos. Se estudian las características de 12 casos de sífilis diagnosticados en nuestro servicio de dermatología entre junio y diciembre de 2004. Resultados. De los 12 pacientes, con edades comprendidas entre los 20 y 48 años, sólo una era mujer, y seis eran homosexuales. Cinco de éstos y un heterosexual estaban, además, infectados por el virus de inmunodeficiencia humana. Tres pacientes fueron diagnosticados en el período primario, mientras que los otros nueve mostraban alteraciones propias del secundarismo, aunque cinco de ellos no tenían conciencia de haber tenido chancro ni adenopatías. La serología fue clave en el diagnóstico dada la gran variedad de manifestaciones clínicas y todos respondieron bien al tratamiento penicilínico. Conclusión. Conviene realizar serología luética en pacientes con cuadros sospechosos de sífilis secundaria, especialmente en pacientes homosexuales y portadores de anticuerpos frente al virus de inmunodeficiencia humana

Introduction. In our milieu, syphilis has been truly rare in recent years, although it has never ceased to be present. However, we would like to draw attention to its recent revival, presenting with certain peculiarities. Patients and methods. The characteristics of 12 cases of syphilis diagnosed in our dermatology department between June and December 2004 were studied. Results. Only one of the 12 patients, whose ages ranged from 20 to 48, was female, and six were homosexual. Five of the latter and one heterosexual were also infected with the human immunodeficiency virus. Three patients were diagnosed in the primary stage, while the other nine showed alterations characteristic of the second stage, although five of them were not aware of having had chancres or adenopathies. Serology tests were key to the diagnosis, because of the great variety of clinical manifestations. All of the patients responded well to penicillin treatment. Conclusion. Luetic serology should be performed in patients with symptoms that suggest secondary syphilis, especially in homosexuals and those who are HIV positive