Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations.

Détails

Ressource 1Télécharger: 29468209_BIB_838EAF5BBC01.pdf (1434.28 [Ko])
Etat: Serval
Version: Final published version
Licence: CC BY-NC-ND 4.0
ID Serval
serval:BIB_838EAF5BBC01
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations.
Périodique
American journal of ophthalmology case reports
Auteur(s)
Meyer P., Graeff E., Kohler C., Munier F., Bruder E.
ISSN
2451-9936 (Electronic)
ISSN-L
2451-9936
Statut éditorial
Publié
Date de publication
03/2018
Peer-reviewed
Oui
Volume
9
Pages
10-13
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.
A four month-old girl with hyphema and increased intraocular pressure of the left eye persisting for 2 weeks. A suspicious yellow-brown mass with nodular surface and traversed by irregular vascularization was noted on the inferior iris surface. Ultrasound biomicroscopy (UBM; 35 MHz) of the mass revealed multiple nodular irregular hyperreflective lesions in the peripheral iris. Using a biopsy of an obvious cutaneous abdominal skin lesion a diagnosis was made based on histopathological analyses. The biopsy showed dense dermal infiltrate consisting of foamy histiocytes. Additional stains revealed CD68 positivity and CD1a and S100 negativity. This mass revealed histopathologic features identical to juvenile xanthogranuloma and was concurrent with the iris lesion. Next-generation sequencing using Ion AmpliSeqTM Cancer Hotspot Panel revealed a missense mutation of javax.xml.bind.JAXBElement@4b0295bb (p.F386L).
The diagnosis of a xanthogranuloma of the iris with hyphema can be made easier in patients with obvious cutaneous lesions as described in our case. The significance of javax.xml.bind.JAXBElement@ee9b82a mutation in association with JXG is unknown and should be further investigated.

Mots-clé
Cutaneous lesion, FGFR3 mutation, Iris, Juvenile xanthoganuloma, Ultrasound biomicroscopy
Pubmed
Open Access
Oui
Création de la notice
08/03/2018 19:00
Dernière modification de la notice
29/05/2019 7:09
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