Cargando…

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defect...

Descripción completa

Detalles Bibliográficos
Autores principales: Montero-Vilchez, Trinidad, Remon-Love, Alexandra, Tercedor-Sánchez, Jesús, Arias-Santiago, Salvador
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008316/
https://www.ncbi.nlm.nih.gov/pubmed/33803120
http://dx.doi.org/10.3390/dermatopathology8010010
Descripción
Sumario:Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases.