Montero-Vilchez Trinidad, Remon-Love Alexandra, Tercedor-Sánchez Jesús, Arias-Santiago Salvador
Department of Dermatology, Hospital Universitario Virgen de las Nieves, 18012 Granada, Spain.
Department of Pathology, Hospital Universitario Virgen de las Nieves, 18012 Granada, Spain.
Dermatopathology (Basel). 2021 Mar 9;8(1):49-53. doi: 10.3390/dermatopathology8010010.
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.
格里塞利综合征(GS)是一种罕见疾病,其特征为银发和白皙皮肤。它属于先天性白发综合征,这是一组罕见的常染色体隐性疾病,特征为银灰色头发以及严重的多系统疾病,如免疫系统损害、免疫功能缺陷、眼部和骨骼改变以及神经系统缺陷。在此,我们报告一例罕见的1型GS病例,并强调皮肤和毛发检查对于早期诊断这些危及生命疾病的重要性。