RESUMEN
We report a 13-year-old girl with Axenfeld-Rieger syndrome who was also found to have microspherophakia. She developed glaucoma in both eyes and was treated with bilateral pars plana lensectomy. To the best of our knowledge, no such association has been reported previously in the literature.
Asunto(s)
Anomalías Múltiples , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/diagnóstico , Glaucoma/diagnóstico , Cristalino/anomalías , Adolescente , Diagnóstico Diferencial , Enfermedades Hereditarias del Ojo , Femenino , Glaucoma/congénito , HumanosRESUMEN
We report the case of a three-year-old male child who presented with a single painless subcutaneously located upper lid mass of 1.2 Chi 1.5 cm with a central depression. The mass could be easily separated from overlying skin on complete excision biopsy and showed a never described before whitish brain like appearance consisting of multiple lobes and gyri, which histopathologically proved to be molluscum contagiosum (MC). Tests to investigate underlying immunodeficiency did not show any evidence of immunocompromised state.
Asunto(s)
Infecciones Virales del Ojo/diagnóstico , Enfermedades de los Párpados/diagnóstico , Molusco Contagioso/diagnóstico , Preescolar , Infecciones Virales del Ojo/patología , Infecciones Virales del Ojo/cirugía , Enfermedades de los Párpados/patología , Enfermedades de los Párpados/cirugía , Humanos , Masculino , Molusco Contagioso/patología , Molusco Contagioso/cirugíaRESUMEN
Congenital erythropoietic porphyria (Gunther's disease) is one of the least common porphyrias. This article describes the life and career of Hans Gunther (after whom the disease is named), his contributions to the field of porphyrias and the current understanding of Gunther's disease.
