RESUMO
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be relatively specific to a SUFU mutation. We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.
Assuntos
Síndrome do Nevo Basocelular , Carcinoma Basocelular , Neoplasias Meníngeas , Humanos , Síndrome do Nevo Basocelular/genética , Proteínas Hedgehog , Carcinoma Basocelular/genética , Carcinoma Basocelular/patologia , Proteínas Repressoras/genéticaRESUMO
Pyoderma gangrenosum is characteristically associated with inflammatory bowel disease. However, the association between this neutrophilic dermatosis and diverticular disease is scarcely mentioned in the literature. Diverticulitis should be included in the differential diagnosis in patients with pyoderma gangrenosum and gastrointestinal complaints, or even in asymptomatic patients, particularly in the elderly. Misdiagnosis can lead to inadequate treatments and serious complications.
