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      Piebaldisme: une anomalie pigmentaire à reconnaitre: à propos d'un cas et revue de la littérature Translated title: Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature

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          Abstract

          Le Piebaldisme est une maladie autosomique dominante rare caractérisée par une anomalie congénitale de la pigmentation de la peau devenant parsemé de zones hypopigmentaires. Il est dû à une anomalie de développement des mélanocytes. Il atteint généralement la peau en exclusivité, par ailleurs il peut être associé à d'autres anomalies ou être confondu avec d'autres diagnostics différentiels. Nous présentons le cas d'un garçon de 5ans atteint de piebaldisme dans le cadre d'un phénotype dermatologique familial sans autres atteintes. Nous discuterons à travers ce cas la pathogénie, la clinique, les diagnostics différentiels ainsi que les modalités de prise en charge et les nouveaux essais thérapeutiques.

          Translated abstract

          Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal melanocytes development. It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. We report the case of a 5-year old boy with piebaldism having a family history of dermatologic phenotype without other alterations. We here highlight the pathogenesis, clinical manifestations, differential diagnosis as well as the management techniques and new therapeutic trials.

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          Most cited references 14

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          Piebaldism.

          Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss-of-function mutation in the KIT gene. Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism that are milder or severer than genetically expected indicate that other factors, such as a modifier gene of MC1R, influence skin and hair color. The KIT ligand/KIT that triggers the Ras/mitogen-activated protein kinase signaling pathway play essential functions in the migration, proliferation, survival, melanogenesis and melanosome transfer of the melanocytes. We summarize current research progress in piebaldism and related disorders. © 2012 Japanese Dermatological Association.
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            Piebaldism: an update.

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              Piebaldism: A brief report and review of the literature

              Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules. We report a family with piebaldism affecting three successive generations and also review the literature.
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                Author and article information

                Journal
                Pan Afr Med J
                Pan Afr Med J
                PAMJ
                The Pan African Medical Journal
                The African Field Epidemiology Network
                1937-8688
                14 November 2016
                2016
                : 25
                Affiliations
                [1 ]Service des Urgences Médicales Pédiatriques, Hôpital d'Enfants Rabat, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc
                Author notes
                [& ]Corresponding author: Hajar El Kouarty, Service des Urgences Médicales Pédiatriques, Hôpital d'Enfants Rabat, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc
                Article
                PAMJ-25-155
                10.11604/pamj.2016.25.155.10499
                5326035
                28292117
                © Hajar El Kouarty et al.

                The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Categories
                Case Report

                Medicine

                piebaldisme, dépigmentation, mélanocyte, piebaldism, depigmentation, melanocyte

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