RESUMEN
The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.
Asunto(s)
Síndrome del Nevo Basocelular/genética , Neoplasias Cerebelosas/genética , Meduloblastoma/genética , Síndromes Neoplásicos Hereditarios/genética , Adolescente , Síndrome del Nevo Basocelular/diagnóstico , Quistes Óseos/diagnóstico , Quistes Óseos/genética , Neoplasias Cerebelosas/diagnóstico , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Neoplasias Mandibulares/diagnóstico , Neoplasias Mandibulares/genética , Meduloblastoma/diagnóstico , Síndromes Neoplásicos Hereditarios/diagnósticoRESUMEN
The association of lower lip pits with cleft lip and/or palate defines the van der Woude syndrome (VWS). VWS has an autosomal dominant mode of inheritance wiht a high penetrance and a variable expression. A gene involved in the origin of VWS is linked to loci on chromosome 1q32-q41. The gene might be involved in the programmed cell death of neural crest derived cells. Other malformations have been associated with the syndrome (dental defects, syngnathia, limb abnormalities, popliteal webs...). We report 4 cases with VWS demonstrating the wide clinical variability. One case shows brain abnormalities that might be part of the clinical spectrum of VWS.