title: [Griscelli-Prunieras syndrome: report of two cases].
abstract: Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.
authors.affiliation: Servei de Pediatria, Corporació Sanitària Hospital Sant Joan de Déu-Clínic, Universitat de Barcelona, Barcelona, España. pgonzalez@hsjdbcn.org
authors.forename: P
authors.initials: P
authors.lastname: González Carretero
authors.forename: A
authors.initials: A
authors.lastname: Noguera Julian
authors.forename: S
authors.initials: S
authors.lastname: Ricart Campos
authors.forename: C
authors.initials: C
authors.lastname: Fortuny Guasch
authors.forename: L
authors.initials: L
authors.lastname: Martorell Sampol
mesh_terms: D000293:Adolescent; D000417:Albinism / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D013577:Syndrome