Premium
Oral features of Griscelli syndrome type II: A rare case report
Author(s) -
Tewari Nitesh,
Rajwar Anju,
Mathur Vijay Prakash,
Chaudhari Prabhat Kumar
Publication year - 2018
Publication title -
special care in dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.328
H-Index - 41
eISSN - 1754-4505
pISSN - 0275-1879
DOI - 10.1111/scd.12328
Subject(s) - chédiak–higashi syndrome , medicine , hypopigmentation , pigmentation disorder , mutation , hemophagocytic lymphohistiocytosis , dermatology , pathology , gene , genetics , biology , disease
Griscelli syndrome (GS) is an autosomal‐recessive disorder of the vesicle transport and membrane trafficking system first identified by Griscelli et al in 1978. The three types of GS have specific genetic defects and systemic manifestations apart from classic partial pigmentary dilution, resulting in hypopigmentation of skin and silvery hair. GS‐II occurs due to a defect in the Rab27a gene and is characterized by primary immune deficiency along with accelerated phases of a hemophagocytic lymphohistiocytosis (HLH) crisis. This rare disorder has been widely studied for dermatological, hematological, and neurological manifestations; however, the oral features and presentations have not been elucidated in detail. This report presents a case of a 4‐year‐old male with known mutation c.550C > T or p.R184X mutation (ENST396307) in Rab27a with oral features.