RESUMEN
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediakâ»Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the clinical, trichoscopic, and genetic features of a rare case of Griscelli syndrome; moreover, we provide an overview of all the GHSs known to date. Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival.
Asunto(s)
Trastornos de la Pigmentación/diagnóstico , Trastornos de la Pigmentación/genética , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/inmunología , Anomalías Múltiples/patología , Adulto , Síndrome de Chediak-Higashi/diagnóstico , Síndrome de Chediak-Higashi/genética , Síndrome de Chediak-Higashi/inmunología , Síndrome de Chediak-Higashi/patología , Preescolar , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/inmunología , Anomalías Craneofaciales/patología , Diagnóstico Diferencial , Femenino , Cabello/anomalías , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/inmunología , Pérdida Auditiva Sensorineural/patología , Humanos , Hipertricosis/inducido químicamente , Iris/anomalías , Masculino , Mutación , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/genética , Síndromes Neurocutáneos/inmunología , Síndromes Neurocutáneos/patología , Piebaldismo/diagnóstico , Piebaldismo/genética , Piebaldismo/inmunología , Piebaldismo/patología , Trastornos de la Pigmentación/inmunología , Trastornos de la Pigmentación/patología , Calidad de Vida , Enfermedades Raras/inmunología , Enfermedades Raras/patología , Anomalías Cutáneas , Proteínas rab27 de Unión a GTP/genéticaRESUMEN
Transgenic mice overexpressing hepatocyte growth factor/scatter factor (HGF/SF) demonstrate extensive pigmented nevi in both skin and leptomeninges of the central nervous system resembling human neurocutaneous melanosis. We immunohistochemically detected HGF/SF receptor, Met, in a congenital nevus of an infant with neurocutaneous melanosis, indicating that deregulation of HGF/SF-Met signaling in the critical period of development may lead to this fatal syndrome.
