Literature DB >> 28232922

"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.

Alexandros C Katoulis1, Dimitra Daskari1, Aikaterini I Liakou1, Evangelia Bozi1, Dimitra Lianou1, Dimitris Rigopoulos1.   

Abstract

We report a case of a 5-year-old girl with physical and psychomotor retardation, acquired microcephaly, and history of recurrent infections. Dermoscopic and microscopic hair examination revealed a "road-dividing line"-like pigmentation of hair shafts. The combination of history, clinical findings, and hair examination led to the diagnosis of Griscelli syndrome type II. The picture of "road-dividing line" on hair microscopic and dermoscopic examination is highly characteristic for Griscelli syndrome, and in this framework, dermatologic examination may be of high importance for the diagnosis.

Entities:  

Keywords:  Griscelli syndrome; Hair shaft; Microscopic hair examination; Pigmentation; Road-dividing line

Year:  2016        PMID: 28232922      PMCID: PMC5264357          DOI: 10.1159/000452165

Source DB:  PubMed          Journal:  Skin Appendage Disord        ISSN: 2296-9160


  5 in total

1.  Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Authors:  Deniz Cağdaş; Tuba Turul Ozgür; Gülten Türkkanı Asal; Ilhan Tezcan; Ayşe Metin; Nathalie Lambert; Geneiveve de Saint Basile; Ozden Sanal
Journal:  Eur J Pediatr       Date:  2012-06-19       Impact factor: 3.183

2.  Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

Authors:  Gaël Ménasché; Chen Hsuan Ho; Ozden Sanal; Jérôme Feldmann; Ilhan Tezcan; Fügen Ersoy; Anne Houdusse; Alain Fischer; Geneviève de Saint Basile
Journal:  J Clin Invest       Date:  2003-08       Impact factor: 14.808

3.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Authors:  Yair Anikster; Marjan Huizing; Paul D Anderson; Diana L Fitzpatrick; Aharon Klar; Eva Gross-Kieselstein; Yackov Berkun; Gila Shazberg; William A Gahl; Haggit Hurvitz
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

Review 4.  Griscelli syndrome: a model system to study vesicular trafficking.

Authors:  Mireille Van Gele; Peter Dynoodt; Jo Lambert
Journal:  Pigment Cell Melanoma Res       Date:  2009-02-25       Impact factor: 4.693

5.  Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Authors:  João C S Bizario; Jérôme Feldmann; Fabíola A Castro; Gaël Ménasché; Cristina M A Jacob; L Cristofani; Erasmo B Casella; Júlio C Voltarelli; Geneviève de Saint-Basile; Enilza M Espreafico
Journal:  J Clin Immunol       Date:  2004-07       Impact factor: 8.317

  5 in total

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