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- Title
Oral features of Griscelli syndrome type II: A rare case report.
- Authors
Tewari, Nitesh; Rajwar, Anju; Mathur, Vijay Prakash; Chaudhari, Prabhat Kumar
- Abstract
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 (ENST00000396307) in Rab27a with oral features.
- Subjects
GRISCELLI syndrome; MOUTH examination; GENETIC disorders; ORAL hygiene; GENETIC mutation; ORAL disease diagnosis; ALBINOS &; albinism; DIFFERENTIAL diagnosis; GENEALOGY; GENETIC techniques; IMMUNOLOGICAL deficiency syndromes; ORAL diseases; HEMOPHAGOCYTIC lymphohistiocytosis; DIAGNOSIS; THERAPEUTICS
- Publication
Special Care in Dentistry, 2018, Vol 38, Issue 6, p421
- ISSN
0275-1879
- Publication type
case study
- DOI
10.1111/scd.12328