Griscelli syndrome type 3 with coexistent universal dyschromia-An uncommon association of a rare entity

被引:2
作者
Mathachan, Sinu Rose [1 ,2 ]
Sinha, Surabhi [1 ,2 ]
Malhotra, Purnima [3 ]
机构
[1] Atal Bihari Vajpayee Inst Med Sci, Dept Dermatol Venereol & Leprosy, New Delhi, India
[2] Atal Bihari Vajpayee Inst Med Sci, Dept Pathol, New Delhi, India
[3] Dr Ram Manohar Lohia Hosp, New Delhi, India
关键词
Grey hair; Griscelli syndrome; universal dyschromia; PHENOTYPE;
D O I
10.4103/idoj.IDOJ_572_19
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Griscelli syndrome type 3 is an autosomal recessive disorder caused by mutations in the melanophilin gene and does not have any mucocutaneous or systemic abnormalities other than a pigmentary dilution of skin and hair. We report a case of an 8-year-old girl who presented with silvery grey hair of scalp, eyebrows, eyelashes, and entire body surface with associated universal dyschromia of the skin. After establishing a definite diagnosis of Griscelli syndrome 3, the prognosis was explained and counseling was given. A review of the literature revealed only 27 cases of Griscelli syndrome type 3 in the English language of which only one case by Batrani et al. has reported an associated dyschromia. We report this case to add to the existing literature on this rare condition and to highlight the coexistence of universal dyschromia with Griscelli syndrome type 3.
引用
收藏
页码:799 / 803
页数:5
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