RESUMEN
Nearly 200 cases of phakomatosis pigmentovascularis (PPV) have been reported worldwide, most of them of Japanese origin. There are 5 types and 10 subtypes of PPV. Its etiology might be explained by the twin spotting phenomenon. The relative frequency of PPV at the National Institute of Pediatrics was 5.8 per 100,000 pediatric patients and 0.634 per 100,000 dermatological patients. We report 24 cases of PPV with an average follow up of 5 years and the following findings: PPV type II A in 4 male and 2 female patients with melanosis bulbi in 3 and glaucoma in 1. PPV type II B in 7 male and 11 female patients, with melanosis bulbi in 9, glaucoma in 9, iris mammillations in 2, Sturge Weber syndrome in 6 female patients, and Klippel-Trenaunay syndrome in 2 males, hemifacial, hemicorporal, or limb hypertrophy without venous insufficiency in 6 female and 4 male patients. During the follow-up time of 60 months, progressive fading of melanotic and vascular macules were observed in 7 patients. No other types of PPV were found. Systemic involvement in PPV was related to the body surface area affected by the vascular macules. Ectodermal and mesodermal migration disorders might be involved in the pathogenesis of PPV.
Asunto(s)
Síndrome de Sturge-Weber/epidemiología , Síndrome de Sturge-Weber/genética , Niño , Preescolar , Enfermedades Hereditarias del Ojo/complicaciones , Enfermedades Hereditarias del Ojo/epidemiología , Femenino , Glaucoma/complicaciones , Glaucoma/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Registros Médicos , México/epidemiología , Estudios Retrospectivos , Convulsiones/complicaciones , Convulsiones/epidemiología , Síndrome de Sturge-Weber/clasificación , Síndrome de Sturge-Weber/complicaciones , Síndrome de Sturge-Weber/patologíaRESUMEN
Presentamos un caso clínico de una embarazada con neurofibromatosis de von Recklinghausen, cuyo embarazo terminó en óbito fetal en el tercer trimestre, determinado probablemente por insuficiencia placentaria. Pese a que ésta es una de las enfermedades genéticas más frecuente, el diagnóstico se realiza en raras ocasiones