RESUMEN
Epidemiological reports strongly indicate that pterygium is an ophthalmoheliosis: a sun-related eye disease. Familial occurrence of pterygium is rare but supports the concept that heredity may predispose the conjunctiva to react abnormally to atmospheric-environmental stimuli. We describe a two generation Caucasian family of five members from the United Kingdom, four of whom developed pterygia in early adulthood with autosomal dominant inheritance. The present report confirms the significance of heredity in the pathogenesis of pterygium. Understanding the genetic basis of pterygium pathogenesis is clinically relevant, particularly in the management of patients who develop recurrent and aggressive pterygia at younger ages.
Asunto(s)
Herencia , Pterigion/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Pterigion/diagnóstico , Reino Unido , Agudeza Visual , Población Blanca/genéticaRESUMEN
PURPOSE: To report a case of an unusual presentation of a glomus jugulare tumour. DESIGN: Case report. RESULTS: Glomus jugulare is a very rare brain tumour that usually presents with tinnitus, hearing loss, dysphagia and hoarseness. We report a case where this extremely rare diagnosis presented quite differently, with ipsilateral proptosis and subsequent facial nerve palsy. Furthermore, the sibling of the presented case had also been diagnosed with the same tumour. CONCLUSIONS: There have only been a few case reports in the literature describing facial nerve palsy in the context of a glomus jugulare tumour. This case highlights that although paragangliomas are exceedingly rare causes of facial palsy, they should be included in the differential diagnosis.