Which clinical history findings are characteristic of juvenile xanthogranuloma (JXG)?

Updated: Feb 08, 2019
  • Author: Bhupendra C K Patel, MD, FRCS; Chief Editor: Michael Taravella, MD  more...
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Answer

Most individuals with juvenile xanthogranuloma (JXG) are asymptomatic. JXG predominantly affects the skin. Although a minority of patients with JXG have ocular involvement, recognition of this condition is important because a treatment delay can lead to complications such as glaucoma and hyphema.

Ocular lesions usually are discovered incidentally or following spontaneous hyphema. They may be noted by observant parents or primary care physicians. Among children with JXG, 10%-40% demonstrate cutaneous lesions characteristic of the condition.

Screening for ocular involvement generally is not performed because of its low incidence. The eye probably is affected in only about 0.5% of patients with cutaneous JXG, [4] although some early studies found an incidence as high as 10%. [5, 6]

Those at greatest risk are children younger than 2 years with multiple skin lesions. [2]

The most common ocular presentation involves the iris. Iris tumors may be diffuse or localized and lead to heterochromia, uveitis, spontaneous hyphema, and secondary glaucoma. [7]

Other ocular tissues are involved much less frequently, and orbital tumors are rare.

Nearly all cases are unilateral, and spontaneous regression of lesions is uncommon.

An association with neurofibromatosis type 1 (NF-1) and juvenile chronic myelogenous leukemia (JCML) has been reported. A recent retrospective review by Cambiaghi of 77 patients younger than 3 years with NF-1 yielded 17 (22%) with JXG, but none developed JCML or other hematologic abnormalities. [8]

Conjunctival, eyelid, and orbital JXG are rare and are more benign than iris JXG.


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