Griscelli Syndrome, Type 1 (GS1)
摘要
Griscelli syndrome type 1 (GS1) is an infrequent condition first reported by Griscelli et al. (1978). The syndrome is identified by neurological deficits that usually appear in early infancy, including seizures, hypotonia, and developmental delay, along with dermatological characteristics such as skin hypopigmentation, silvery-gray hair, accumulation of pigment in hair shafts, and melanosome in melanocytes. It should be noted that Elejalde syndrome (ES), also known as neuroectodermal melanolysosomal disease, manifests the exact characteristics of GS1, such as skin hypopigmentation and silvery hair, neurological dysfunctions, and ophthalmological anomalies. Most interestingly, these syndromes share similar gene mutation in myosin Va (MYO5A), making it challenging to distinguish between them. However, whether they arise from the same or distinct entities is controversial (Abd Elmaksoud et al. 2020). Since ES and GS1 show common features, there is no clear prevalence estimation of GS1 alone. Nevertheless, approximately 20 cases of GS1, along with those of ES, have been reported (Cağdaş et al. 2012) (Fig. 1).