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

Abstract

PurposeTo report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.ObservationsA 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 FGFR3 (p.F386L).Conclusion and importanceThe 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 FGFR3 mutation in association with JXG is unknown and should be further investigated.

BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

“…At the far ends of their phenotypic spectra, LCH, ECD, and JXG all have distinct clinical and pathologic features; however, this shared categorization was proposed based on similar molecular alterations, mixed LCH/ECD histiocytic presentations in adult cases, and accumulating data supporting a common hematopoietic precursor, at least between adult LCH and ECD [21]. However, pediatric extracutaneous JXG with MAPK molecular alterations as an L-group histiocytosis, has been less studied in relation to its possible shared origins with LCH and pediatric ECD [10, 16, 38, 40, 46, 51] Furthermore, while the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH [3, 5, 30, 53], only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation; however, none showed evidence of systemic disease or a prior history of LCH [56].…”

Disseminated juvenile xanthogranulomas with ocular involvement: A case report and literature review

“…3 Early recognition is crucial in order to prevent secondary glaucoma, vision loss and complications related to neovascularization since ocular lesions do not tend to resolve spontaneously. 2 , 3 , 5 – 13 Risk factors for ocular involvement included multiple skin lesions, micronodular form of JXGs, newly diagnosed JXG and age 2 years or younger. 2 , 4 , 11 In a recent review in Pediatric Dermatology, eye examination was recommended for patients with multiple JXG but unnecessary for those with single cutaneous JXG.…”

“…2 Most ocular lesions are unilateral and range from iris lesions to spontaneous hyphema, conjunctival mass, uveitis, heterochromia and rarely, posterior segment involvement. 2,[7][8][9][10][11][12][13] Iris lesions can be subtle but are the most frequent intraocular manifestation (68%). 3 They present as yellowish vascularized masses or as heterochromia, often leading to spontaneous hyphema.…”

Eyelid Juvenile Xanthogranuloma: A Case Report and Literature Review

“…Based on the case reports, most of JXG that involved deep structures of the eye such as iris, retina or choroid are usually associated with systemic manifestation. Gharib et al and Meyer et al performed cutaneous biopsy as a guidance to diagnosed spontaneous hyphema [13, 14]. They successfully preserved the eye by treating the disease conservatively.…”