1. POSTER TITLE: Griscelli syndrome –The silvery hair disorder
PRESENTER NAME:Kalaiarasi.K, Alka Rani Patil ,Sahana , Vykuntaraju KN
INTRODUCTION AND KEYWORD:Griscelli syndrome (GS) is a rare silvery grey hair disorder ,characterized by pigmentary dilution of skin and hair which is inherited as autosomal recessive trait .Here We report a series of 7 cases
Key word : Griscelli syndrome ( GS )
AIM:To describe clinical features and outcome of Griscelli syndrome
MATERIALS AND METHODS:
Retrospective chart review of Griscelli syndrome cases seen between Jan 2014 and August 2016 were studied from tertiary care pediatric hospital in Bangalore.
Out of Seven cases, male:female ratio was 3:4 ; Consanguinity was seen in four patients (57.1%). Clinical findings were silvery grey hairs on scalp, eye brows, eyelashes in all patients, with developmental delay in 2 cases (28.57 %), with systemic organ involvement in 3 patients (42.8%), positive similar complaints in family members were in 2 cases (28.5%) with three deaths (42.8%) Molecular gene study helps in confirming the syndrome, but still the clinical findings and light microscopy of hair is distinctive and hence our cases were proven on clinical and light microscopy examination of hair shaft.Fig 1 and Fig 2 shows children with silvery hairs on scalp , eyebrows, and eyelashes. Fig 3 – shows microscopic pigmentary changes of hair shaft –melanosomes arranged in clusters in irregular fashion.
Fig 1 Fig 2
CONCLUSION:Any child with silvery hair should be thoroughly investigated to rule out silvery grey hair syndromes , where Griscelli syndrome type 3 has good prognosis. Counselling to parents about the disorder is important
RESULTS:Out of Seven cases, male:female ratio was 3:4 ; Consanguinity was seen in four patients (57.1%). ,type 1 griscelli was 28% , type % , positive family history – 28 % and death – 42 %
REFERENCES:
1.Sahana MS, Sacchidanand S, Hiremagalore R, Asha GS. Silvery Grey Hair: Clue to Diagnose Immunodeficiency.Int.J .Trichol 2012;4:835.
2. Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J ;13(2):17.
3.I.P. Meschede, T.O. Santos Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene .Brazilian Journal of Medical and Biological Research (2008) 41:
4.Manglani M, Adhvaryu K, Seth B. Griscelli syndrome - a case report. Indian Pediatr 2004:41:734-7.
5.Vieira- Karuta SC et al. Griscelli syndrome and electroencephalography pattern. Arq. Neuro-Psiquiatr.2008;66(2): [PMID: ]
6.Fukuda M. Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families. J Biochem 2005;137:9-16.
7.Menasche G, Feldmann J, Fischer A, de Saint Basile G. Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol Rev 2005; 203:
8. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science 2004; 305:
9.Barral DC, Seabra MC. The melanosome as a model to study organelle motility in mammals. Pigment Cell Res 2004; 17:
10.Sayyahfar S, Karimi A, Fahimzad A, Ghorubi J, Gharib A , Armin S . First report of Griscelli syndrome from Afghan 14. population in IRAN .Journal of Research in Medical Sciences January & February 2008; 13(1):38-40.