RESUMO
Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder caused by mutations in the hedgehog signaling pathway, mainly in PTCH1. This pathway is involved in embryogenesis and tumorigenesis, and the loss of function of PTCH1 protein produces an aberrant increase in the hedgehog signaling pathway activity. Basal cell nevus syndrome is characterized by tumor predisposition, particularly with the development of multiple basal cell carcinomas at an early age, along with odontogenic keratocysts, palmoplantar pits, skeletal abnormalities, and an increased risk of medulloblastoma. Diagnosis is clinical, with gene mutation analysis confirming the suspicion. The striking phenotypic variability of the syndrome may lead to a delayed diagnosis, making it an uncommon but important entity to recognize. A high index of suspicion and an early diagnosis is crucial for prevention, surveillance, and the prompt establishment of multidisciplinary medical care.
Assuntos
Síndrome do Nevo Basocelular , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/genética , Proteínas Hedgehog/genética , HumanosRESUMO
The frequency of infection caused by the recently described pathogen Mycobacterium lepromatosis is unknown. Here, we describe the demographics, clinical characteristics, and therapeutic outcomes of five lepromatous leprosy patients suffering from M. lepromatosis infection in Nuevo Léon, Mexico. Diagnosis was facilitated by a new highly specific PCR procedure.
