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Annales de Dermatologie et de Vénéréologie
Volume 137, n° 5
pages 364-368 (mai 2010)
Doi : 10.1016/j.annder.2010.02.019
Received : 15 February 2007 ;  accepted : 8 January 2010
Fibromatose hyaline juvénile
Juvenile hyaline fibromatosis
 

S. Mallet a, , T. Boye a, S. Hesse b, B. Fournier a, B. Guennoc a, F. Carsuzaa a
a Service de dermatologie des Armées, hôpital d’instruction des Armées Sainte-Anne, 2, boulevard Sainte-Anne, BP 600, 83800 Toulon-Naval, France 
b Service de dermatologie, CHU de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France 

Auteur correspondant.
Résumé
Introduction

La fibromatose hyaline juvénile et la hyalinose systémique infantile sont deux maladies autosomiques récessives rares, liées à des mutations du gène codant la protéine de morphogenèse capillaire de type 2. Elles sont caractérisées par l’accumulation de dépôts hyalins cutanéo-articulaires pour la première, cutanéo-articulaires et viscéraux pour la seconde. Nous rapportons le cas d’une enfant présentant un tableau de fibromatose hyaline juvénile.

Observation

Une enfant âgée de deux ans développait progressivement un tableau associant hypertrophie gingivale, lésions cutanées papulonodulaires et atteinte ostéo-articulaire. Le diagnostic proposé de fibromatose hyaline juvénile était confirmé par l’histologie et l’étude génétique. L’enfant développait également des troubles digestifs conduisant à discuter le diagnostic de hyalinose systémique infantile.

Discussion

Ce cas illustre l’éventail phénotypique de la fibromatose hyaline juvénile. Le diagnostic doit être évoqué le plus rapidement possible afin de prévenir les séquelles esthétiques et fonctionnelles.

The full text of this article is available in PDF format.
Summary
Background

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are two rare autosomal recessive diseases arising from mutation in the capillary morphogenesis factor-2 gene. They are characterized by accumulation of hyaline material, in the skin in the first instance and in other organs in the second. We describe a case of juvenile hyaline fibromatosis.

Case report

A 2-year-old girl presented gingival hyperplasia, skin papules, subcutaneous nodules and joints and bones lesion. A diagnosis of juvenile hyaline fibromatosis was suggested and this was confirmed by histopathology and genetic analyses. The patient presented frequent episodes of diarrhoea, which is evocative of infantile systemic hyalinosis.

Discussion

This case clearly illustrates the wide phenotypic range of juvenile hyaline fibromatosis. Diagnosis must be made as soon as possible to avoid cosmetic and functional handicap.

The full text of this article is available in PDF format.

Mots clés : Fibromatose hyaline juvénile, Hyalinose systémique infantile

Keywords : Juvenile hyaline fibromatosis, Infantile systemic hyalinosis




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