عنوان

A rare pigmentary disorder in two non-identical siblings:

شماره

LA4r42t43w

عنوان اصلي

A rare pigmentary disorder in two non-identical siblings:

نام عام مواد

[Article]

نام نخستين پديدآور

Kaur, Sarabjit; Jindal, Nidhi; Dayal, Surabhi; Jain, Vijay Kumar; Jairath, Vijayeeta; Virdi, Sunny

عنوان اصلي به قلم نويسنده ديگر

Griscelli Syndrome -type 3

متن يادداشت

Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Two siblings discussed here had silvery hair, eyebrows and eyelashes since birth with no features suggestive of immunodeficiency or neurological impairment, making it an even rarer presentation of Griscelli Syndrome, type 3. Diagnosis was confirmed on light microscopy (LM) of hair shafts. Both GS1 and GS2 have been described earlier. However, extensive search of the literature failed to reveal a similar presentation from Indian origin. This is the first ever report of GS-3 in non-identical siblings from India.

تاريخ نشر

2014

عنوان

UC Davis

نام الکترونيکي

نوع ماده

[Article]

کد کاربرگه

275578

سطح دسترسي

a

تكميل شده

Y