Dermatologic Manifestations of Juvenile Xanthogranuloma Clinical Presentation

Updated: Oct 17, 2019
  • Author: Sally H Monahan, MD; Chief Editor: William D James, MD  more...
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Presentation

History

Patients with juvenile xanthogranuloma (JXG) usually present in infancy or early childhood with an asymptomatic; smooth; round; yellow, red, or brown papule or papules. Lesions are usually asymptomatic.

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Physical Examination

The most frequent site of juvenile xanthogranuloma (JXG) occurrence is on the head and neck, [13, 14] followed by the trunk and upper extremities; however, JXG may occur anywhere on the skin.

When viewed under dermoscopy, an orange-yellow background with “clouds” of pale yellow interspersed within the lesion has been described. This is usually accompanied by an erythematous halo with linear and branching vessels extending from the periphery to the center of the lesion. [15, 16]

Up to 81% of cutaneous JXG cases manifest as a solitary lesion. This form is also more common in cases of adult xanthogranulomas.

Involvement is rare on mucous membranes, the tongue, palms, and soles.

Both papular and nodular forms of JXG have been described. The papular form consists of multiple, 2- to 5-mm, smooth, firm papules that initially are red-brown, then quickly change to yellow. The rarer nodular form consists of round, 0.5- to 2-cm, translucent, red-to-yellow, rubbery nodules with telangiectasias (nodules change to yellow-brown with time).

Giant JXG refers to nodules and masses greater than 2 cm (largest reported mass was 10 X 5 cm). [17, 18]

Rarer variants include a mixed form characterized by both papular and nodular lesions, in which grouped papules coalesce, and a subcutaneous form (approximately 5%), with a single deep nodule or mass formation.

Extracutaneous JXG is rare (3.9%) and most commonly involves the eye (< 1%) and periorbital region. [19] Ocular JXG most commonly manifests in the iris. [20] Cutaneous findings are absent at the time of diagnosis in approximately 50% of cases of ocular JXG. Risk factors for eye involvement include multiple skin lesions and age younger than 2 years. Most cases of ocular JXG present with acute eye changes such as erythema, uveitis, or hyphema. [19]

Following in frequency of ocular involvement are lung and liver manifestations of JXG. [21] Even more rarely, lesions occur in the adrenal gland, appendix, bones, bone marrow, [21, 22] central nervous system, [23] gonads, kidney, larynx, myocardium, pericardium, retroperitoneum, small and large intestines, and spleen. Only 50% of systemic lesions are accompanied by cutaneous JXG, and these cutaneous lesions tend to appear as multiple, rather than solitary, papules or nodules. The size of a cutaneous lesion does not correlate with the presence or absence of systemic JXG.

Café au lait macules occur in approximately 20% of patients with papular JXG.

Several other morphological presentations have been described, including clustered, hyperkeratotic, pedunculated, plaquelike, and linear arrangements.

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Complications

Complications associated with juvenile xanthogranulomas (JXGs) are rare and are dependent on the site of involvement and associated conditions.

Ocular involvement may progress to ocular hemorrhage, glaucoma, or retinal detachment. These complications are best prevented through early detection.

CNS involvement is a very rare complication.

Hepatic failure is a rare, but potentially fatal, complication of systemic JXG. [24]

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