Kassem Youssef H, Ramstein C, Ginglinger E, Chouta Ngaha F, Nojavan H, Michel C
Service de dermatologie, GHR Mulhouse Sud-Alsace, 87, avenue Altkirch, 68100 Mulhouse, France.
Service de dermatologie, GHR Mulhouse Sud-Alsace, 87, avenue Altkirch, 68100 Mulhouse, France.
Ann Dermatol Venereol. 2018 Dec;145(12):785-789. doi: 10.1016/j.annder.2018.07.030. Epub 2018 Oct 30.
Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis.
A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Microscopic analysis of a hair shaft revealed irregularly distributed clumps of melanin. DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type 3.
Three clinical phenotypes of GS have been described based on the underlying genetic defect. GS type 1 and 2 are associated respectively with a central nervous system dysfunction and an immune defect. GS type 3 is an isolated cutaneous form. Diagnosis is confirmed on microscopic examination of hair shafts. 15 cases of GS type 3 have been reported: 9 in males and 6 in females. Mean age at diagnosis is around 12 years. Nine of the reported patients were of Arab origin, four of Turkish origin, and one of Indian origin. R35W mutation was described in 9 cases and E98X and R35Q mutations were each found in one case.
GS should be suspected in patients presenting gray silvery hair, particularly when these patients are of Arab or Turkish origin.
格里塞利综合征（GS）是一种罕见的常染色体隐性遗传病，其特征为皮肤和毛发色素减退。我们报告1例3型GS的迟发性诊断病例。
一名31岁女性患者在儿童期出现头发和眉毛色素脱失以及弥漫性皮肤色素减退。对一根毛发进行显微镜分析显示黑色素团块分布不规则。DNA测序显示MLPH基因第1外显子存在纯合的C103T（R35W）转换，确诊为3型格里塞利综合征。
根据潜在的基因缺陷，GS有三种临床表型。1型和2型GS分别与中枢神经系统功能障碍和免疫缺陷相关。3型GS是一种孤立的皮肤型。通过对毛发进行显微镜检查确诊。已报道15例3型GS病例：男性9例，女性6例。确诊时的平均年龄约为12岁。所报道的患者中，9例为阿拉伯裔，4例为土耳其裔，1例为印度裔。9例患者存在R35W突变，1例患者各发现E98X和R35Q突变。
对于出现银灰色头发的患者，尤其是阿拉伯裔或土耳其裔患者，应怀疑患有GS。
