scholarly journals Griscelli Syndrome in a seven years old girl

2021 ◽  
Vol 9 (5) ◽  
Author(s):  
Borhan Moradveisi ◽  
Avat Karimi ◽  
Shirin Behzadi ◽  
Farima Zakaryaei
Keyword(s):  
Griscelli Syndrome

scholarly journals Melanogenesis Connection with Innate Immunity and Toll-Like Receptors

2020 ◽  
Vol 21 (24) ◽  
pp. 9769
Author(s):  
Saaya Koike ◽  
Kenshi Yamasaki
Keyword(s):  
Skin Pigmentation ◽  
Innate Immune ◽  
Mitogen Activated Protein Kinase ◽  
Ultraviolet Rays ◽  
Toll Like Receptors ◽  
Pigment Formation ◽  
Living Body ◽  
Pigmentary Disorders ◽  
Wide Range ◽  
Griscelli Syndrome

The epidermis is located in the outermost layer of the living body and is the place where external stimuli such as ultraviolet rays and microorganisms first come into contact. Melanocytes and melanin play a wide range of roles such as adsorption of metals, thermoregulation, and protection from foreign enemies by camouflage. Pigmentary disorders are observed in diseases associated with immunodeficiency such as Griscelli syndrome, indicating molecular sharing between immune systems and the machineries of pigment formation. Melanocytes express functional toll-like receptors (TLRs), and innate immune stimulation via TLRs affects melanin synthesis and melanosome transport to modulate skin pigmentation. TLR2 enhances melanogenetic gene expression to augment melanogenesis. In contrast, TLR3 increases melanosome transport to transfer to keratinocytes through Rab27A, the responsible molecule of Griscelli syndrome. TLR4 and TLR9 enhance tyrosinase expression and melanogenesis through p38 MAPK (mitogen-activated protein kinase) and NFκB signaling pathway, respectively. TLR7 suppresses microphthalmia-associated transcription factor (MITF), and MITF reduction leads to melanocyte apoptosis. Accumulating knowledge of the TLRs function of melanocytes has enlightened the link between melanogenesis and innate immune system.

Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome

2021 ◽  
Vol 132 ◽  
pp. S278
Author(s):  
Alissa Wlodaver ◽  
Edward Caparelli ◽  
Rebekah Turner ◽  
Mercedes Silva ◽  
Marisa Klein-Gitelman ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Griscelli Syndrome

Permanent Poliosis following Repetitive Plucking in an Adolescent

2010 ◽  
Vol 14 (4) ◽  
pp. 193-194 ◽  
Author(s):  
Cheng Tan ◽  
Wen-Yuan Zhu
Keyword(s):  
Hair Follicles ◽  
White Hair ◽  
Apert Syndrome ◽  
Waardenburg Syndrome ◽  
Griscelli Syndrome

Background and Objective: Poliosis is an inherited or acquired loss of pigment from a group of closely positioned hair follicles characterized by a patch of white hair. It is commonly seen in vitiligo, piebaldism, Waardenburg syndrome, Vogt-Koyanagi-Harada syndrome, Griscelli syndrome, and Apert syndrome. We investigated a male manifesting poliosis on the chin after repetitive plucking. Conclusion: To our knowledge, poliosis induced by repeated plucking has never been documented.

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

2018 ◽  
Vol 45 (12) ◽  
pp. 918-922
Author(s):  
Meenakshi Batrani ◽  
Akhilesh Thole ◽  
Asha Kubba ◽  
Khushbu Mahajan
Keyword(s):  
Syndrome Type ◽  
Griscelli Syndrome ◽  
Type 3

Myelodysplastic syndrome associated with Griscelli syndrome

1998 ◽  
Vol 22 (9) ◽  
pp. 859-862 ◽  
Author(s):  
Mualla Çetin ◽  
Gönül Hiçsönmez ◽  
Safiye Göğüş
Keyword(s):  
Myelodysplastic Syndrome ◽  
Griscelli Syndrome

Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene

2004 ◽  
Vol 24 (4) ◽  
pp. 397-410 ◽  
Author(s):  
João C. S. Bizario ◽  
Jérôme Feldmann ◽  
Fabíola A. Castro ◽  
Gaël Ménasché ◽  
Cristina M. A. Jacob ◽  
...  
Keyword(s):  
Cytotoxic Activity ◽  
New Mutation ◽  
Griscelli Syndrome ◽  
Retroviral Transfer

A hemophagocytic syndrome revealing a Griscelli syndrome type 2

2013 ◽  
Vol 71 (4) ◽  
pp. 461-464
Author(s):  
Selim Jennane ◽  
Maria El Kababri ◽  
Laila Hessissen ◽  
Amina Kili ◽  
Mohamed Nacer Nachef ◽  
...  
Keyword(s):  
Hemophagocytic Syndrome ◽  
Syndrome Type ◽  
Griscelli Syndrome
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