Juvenile Xanthogranuloma

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

Background

Juvenile xanthogranuloma (JXG) is primarily a self-limited dermatologic disorder that is associated rarely with systemic manifestations. Infants and small children are mainly affected.

Histiocytic disorders can be divided broadly into two categories: Langerhans cell histiocytosis (LCH) and non-LCH. JXG is a benign cutaneous disorder and is the most common form of non-LCH.

JXG consists of lesions that may be single or multiple and appear as firm, slightly raised papulonodules several millimeters in diameter. They are tan-orange in color and occur frequently on the head and neck, but many extracutaneous sites have been reported. See the image below.

Juvenile xanthogranuloma. Photograph of an 18-mont Juvenile xanthogranuloma. Photograph of an 18-month-old presenting with a firm, nodular, tan-yellow lesion that has grown since first noticed 6 months ago. An examination under anesthesia did not reveal any ocular abnormalities. Excision of the lesion confirmed that this was a juvenile xanthogranuloma.

The eye, particularly the uveal tract, is the most frequent site of extracutaneous involvement. Approximately one half of patients with ocular involvement have skin lesions. JXG is the most frequent cause of spontaneous hyphema in children and can result in secondary glaucoma and eventual blindness.

In 1948, Fry first described iris involvement in association with juvenile xanthogranuloma (JXG) at a meeting of the Ophthalmic Pathology Club in Washington, DC (the case was later published by Blank et al a year later). Subsequently, major contributions were by Sanders in 1960 (a multicenter series of 20 cases of iris JXG) and Zimmerman in 1965 (53 cases of ocular JXG). Zimmerman demonstrated that the iris and eyelid were the two most common ocular sites involved.

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Pathophysiology

The etiology of JXG is unknown. JXG is believed to result from a disordered macrophage response to a nonspecific tissue injury, resulting in a granulomatous reaction. JXG is on a spectrum of histiocytic disorders that includes benign cephalic histiocytosis, generalized eruptive histiocytosis, adult xanthogranuloma, and progressive nodular histiocytosis. These diseases are less common than the related Langerhans cell histiocytoses. [1]

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Epidemiology

Frequency

United States

The frequency is unknown, but it may be higher than reported, since lesions occur early in life, may be misdiagnosed, and spontaneously regress. In those affected, 92% of ocular involvement occurs before age 2 years. [2]

Mortality/Morbidity

Cutaneous lesions generally are self-limited and rarely require treatment. The risk of morbidity is high with ocular involvement and can include hyphema, glaucoma, corneal blood staining, cataract, vascular occlusion, and retinal detachment, all of which can lead to amblyopia in childhood. Rarely, death has been reported among children with visceral JXG.

Race

No reported predilection of race exists in JXG, although few African American patients have been described.

Sex

Cutaneous JXG is reported 1.5 times more in male children, but no sex predilection exists in adults. Both sexes are equally at risk for ocular involvement.

Age

JXG may be present at birth (in about 10%) but most often arises in infancy. Children younger than 6 months are more likely to have multiple lesions. [2] Zimmerman reported 64% of cutaneous lesions to be present by age 7 months and 85% before 1 year. Adult onset is reported infrequently. [3]

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Prognosis

Spontaneous regression of skin lesions is the natural course, but in ocular disease, regression has only been infrequently documented.

JXG is an important cause of spontaneous hyphema in childhood, the sequelae of which include secondary glaucoma and blindness.

Visual prognosis of iris JXG depends upon prompt diagnosis and treatment prior to intraocular hemorrhage. Once hyphema occurs, visual morbidity increases substantially.

In patients with other ocular or orbital involvement, prognosis varies with the extent of the disease and its response to treatment.

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Patient Education

Patients with cutaneous lesions should be made aware of the importance of a screening eye examination and regular follow-up care.

Patients with known ocular disease should undergo prompt treatment as appropriate. They should avoid any situation where ocular trauma could occur until resolution of the ocular disease is achieved.

Patients should be made aware of the signs and symptoms of spontaneous hyphema and seek ophthalmic attention as soon as possible if these are noted to occur.

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