RESUMEN
Abstract: Nodular vasculitis is an uncommon type of panniculitis. It was firstly associated to the infection by Mycobacterium tuberculosis and named erythema induratum of Bazin, however nowadays it has been associated with several other underlying disorders and it is better described as nodular vasculitis. Concerning its relationship with malignant conditions, there is only one reported case, in association with metastatic colon adenocarcinoma. We report a case of nodular vasculitis as the first manifestation of lung adenocarcinoma. To the best of our knowledge, this is the first reported association of both diseases.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Adenocarcinoma/complicaciones , Eritema Indurado/etiología , Neoplasias Pulmonares/complicaciones , Adenocarcinoma/diagnóstico , Eritema Indurado/patología , Resultado Fatal , Neoplasias Pulmonares/diagnósticoAsunto(s)
Acrospiroma/anatomía & histología , Acrospiroma/diagnóstico , Acrospiroma/epidemiología , Adenoma de las Glándulas Sudoríparas/anatomía & histología , Adenoma de las Glándulas Sudoríparas/diagnóstico , Adenoma de las Glándulas Sudoríparas/epidemiología , Humanos , Masculino , Persona de Mediana Edad , TóraxRESUMEN
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.
Uma mulher de 45 anos com história de carcinoma renal foi observada por pápulas cor da pele, faciais, cervicais e tronculares. Referia história familiar de achados cutâneos semelhantes e irmão com episódios repetidos de pneumotórax. Identificaram-se múltiplos quistos pulmonares por tomografia computorizada. Uma biópsia cutânea revelou fibroma perifolicular. O diagnóstico clínico de síndrome de Birt-Hogg-Dubé (BHDS) foi contudo corroborado pela identificação de uma nova mutação frameshift c.573delGAinsT (p.G191fsX31) em heterozigotia no exão 6 do gene da foliculina. A presença de múltiplos e típicos tumores benignos do folículo piloso, realça o papel do dermatologista no diagnóstico desta rara genodermatose, que está associada a um risco aumentado de tumores de células renais e cistos pulmonares, exigindo seguimento e aconselhamento pessoal e familiar.