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Open AccessCase Report

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

1
Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy
2
Department of Pathology, Cytogenetic and Medical Genetics Unit, ASST Spedali Civili, 25123 Brescia, Italy
3
Pediatric Hematology and Oncology Unit, ASST Spedali Civili, 25123 Brescia, Italy
4
Pediatric Onco-Haematology Division, City of Health and Science of Turin, 10126 Turin, Italy
5
Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy
*
Author to whom correspondence should be addressed.
Medicina 2019, 55(3), 78; https://doi.org/10.3390/medicina55030078
Received: 25 February 2019 / Revised: 11 March 2019 / Accepted: 22 March 2019 / Published: 25 March 2019
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Abstract

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak–Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the clinical, trichoscopic, and genetic features of a rare case of Griscelli syndrome; moreover, we provide an overview of all the GHSs known to date. Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival. View Full-Text
Keywords: genodermatoses; genetic skin disorders; pigmentation disorders; gray hair syndromes; griscelli syndrome; congenital hypopigmentary disorders genodermatoses; genetic skin disorders; pigmentation disorders; gray hair syndromes; griscelli syndrome; congenital hypopigmentary disorders
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Gironi, L.C.; Zottarelli, F.; Savoldi, G.; Notarangelo, L.D.; Basso, M.E.; Ferrero, I.; Timeus, F.; Fagioli, F.; Maiuri, L.; Colombo, E.; Savoia, P. Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. Medicina 2019, 55, 78.

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