RESUMO
Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13. We describe a family, in which we performed a molecular-genetic examination and found a new mutation in exon 19 in the CYLD gene leading to a frameshift. It is important to be aware of this syndrome and its pathogenesis as its phenotypic features can vary so that apparently different diseases are caused by the same genetic defect. In addition, there may be malignant transformation of the generally benign tumors, so that a timely diagnosis is essential for appropriate monitoring and therapy.
Assuntos
Carcinoma Adenoide Cístico/genética , Análise Mutacional de DNA , Neoplasias Faciais/genética , Mutação da Fase de Leitura , Neoplasias Primárias Múltiplas/genética , Couro Cabeludo , Neoplasias Cutâneas/genética , Proteínas Supressoras de Tumor/genética , Adenoma de Glândula Sudorípara/diagnóstico , Adenoma de Glândula Sudorípara/genética , Adenoma de Glândula Sudorípara/patologia , Adolescente , Adulto , Biópsia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/patologia , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/genética , Carcinoma Basocelular/patologia , Aberrações Cromossômicas , Cromossomos Humanos Par 16/genética , Enzima Desubiquitinante CYLD , Éxons/genética , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/patologia , Feminino , Genes Dominantes/genética , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/patologia , Neoplasias Nasais/genética , Neoplasias Nasais/patologia , Fenótipo , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , SíndromeRESUMO
Primary mucinous eccrine carcinoma of the skin is an extremely rare tumor most frequently occurring in the face or capillitium. It is felt to be an eccrine carcinoma, characterized by slow progress and unpredictable locally infiltrative growth. Therefore micrographic surgery is important to avoid local recurrence. It can be difficult to differentiate this carcinoma histologically from cutaneous metastases of breast or gastrointestinal tumors. Because of this, a primary staging in affected patients is essential.