Archive

Winter 2014, Vol. 22 No. 4

Hong Kong J. Dermatol. Venereol. (2014) 22, 191-193

Paediatric Dermatology Column: Case Report

Silvery hair syndromes: report of familial cases of Griscelli syndrome in three siblings

銀髮綜合徵：一個三姐妹患有格里塞利綜合徵的家族案例報告

A Molina-Leyva and MA Fernandez-Pugnaire

Abstract

Silvery hair is a rare clinical feature, common in a group of rare syndromes, which usually present in the paediatric age group termed together as "silvery hair syndromes". We report a consanguineous family in which three out of four siblings had silvery hair and neurological deficits and were diagnosed to have Griscelli syndrome. The diagnosis of Griscelli syndrome in our cases was based on clinical findings with severe neurological impairment in the absence of immunodeficiency and the characteristic findings of hair light microscopy.

銀色頭髮是一種罕見的臨床特徵，常見於一羣罕見的綜合徵，通常出現在兒童年齡組，統稱為「銀髮綜合徵」。我們報告一對近親婚姻父母的四個子女，當中三姐妹有著銀色頭髮和神經系統殘疾，她們被確診患有格里塞利綜合徵。這些病患的格里塞利綜合徵診斷是建基於沒有免疫力缺乏下的嚴重神經損傷的臨床表現和頭髮在顯微鏡下的特徵表現。

Keywords: Griscelli syndrome, silvery hair syndromes

關鍵詞: 格里塞利綜合徵、銀髮綜合徵