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Manifestations dermatologiques des connectivites, vasculites et affections systémiques apparentées pp 203–221Cite as

Mastocytoses

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Abstrait

L’accumulation anormale de mastocytes dans un ou plusieurs organes caractérise les mastocytoses. Elles constituent un groupe hétérogène d’atteintes dont l’organe cible sans doute le plus souvent concerné est la peau. On distingue les mastocytoses cutanées pures des mastocytoses systémiques (MS) quand plus de deux tissus (la peau pouvant être indemne) sont atteints par une infiltration mastocytaire (moelle osseuse, tube digestif, os, foie et rate, ganglions). Elles sont rares et qualifiées de maladies orphelines en raison d’une incidence de 2/300 000 patients par an1, d’apparition le plus souvent sporadique, rarement familiale. Observées majoritairement dans les populations caucasiennes, avec un sex-ratio équilibré, les mastocytoses concernent les enfants dans près de deux tiers des cas, sous une faume cutanée pure le plus souvent. Le régression spontanée de la maladie est présente dans près de 50% d’entre eux à la puberté. Les adultes atteints (âge moyen de début de 32 ans) ont une atteinte systémique dans 10 à 30% des cas avec une évolution habituellement chronique de la maladie. Certains patients plus âgés (20 ans) ont une forme plus agressive souvent associée à une attein te hématologique faisant le pronostic défavorable de la maladie2. Les manifestations cliniques des mastocytoses sont variées et liées en partie aux médiateurs mastocytaires libérés par les mastocytes sur un mode paroxystique, et en partie à ’infiltrat cellulaire spécifique anormal paur les manifestations permanentes. Les symptômes liés à la libération spontanée ou provoquée des médiateurs mastocytaires sont locaux ou généraux. La physiopathologie des mastocytoses est mieux connue depuis la découverte du récepteur tyrosine kinase c-kit du SCF (facteur de croissance mastocytaire) et de ses mutations autoactivatrices dont la plus fréquente est la D816V, localisée au site catalytique du récepteur. La théorie, clonale semble actuellement prévaloir dans les mastocytoses de ’adulte même si près de 20 à 30% d’entre elles n’ont pas de mutation de c-kit retrouvée.

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Authors
  1. Stéphane Barete
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© 2007 Springer-Verlag France

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Barete, S. (2007). Mastocytoses. In: Manifestations dermatologiques des connectivites, vasculites et affections systémiques apparentées. Springer, Paris. https://doi.org/10.1007/978-2-287-33886-1_16

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  • DOI: https://doi.org/10.1007/978-2-287-33886-1_16

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-287-33885-4

  • Online ISBN: 978-2-287-33886-1

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