BASICS

DESCRIPTION

• Juvenile xanthogranuloma (JXG) is a nonneoplastic form of non-Langerhans cell group (class II) of histiocytic proliferative disorders typically seen in infants and children.

– Usually a self-limited dermatologic disorder consisting of skin lesions on the head, neck, and trunk.

– Extracutaneous JXG occurs in 4–5%.

– May involve the eye, lung, GI tract, bone, and muscles.

• Ocular JXG occurs in about 10% of all JXG.

– May involve the iris, eyelid, cornea, conjunctiva, ciliary body, choroid, episclera, posterior segment, or orbit.

EPIDEMIOLOGY

Incidence

• Frequency is unknown.

– Incidence may be higher than reported as lesions may spontaneously regress by 5 years of age.

• More common in Caucasians.

• Single cutaneous lesion occurs in 83–90% of patients with JXG.

– Median age of presentation with solitary skin lesion is 2 years old.

– Median age of presentation with multiple skin lesions is 5 months old.

– Increased predominance in males if multiple skin lesions present.

– 10% of cases occur at birth.

– 85% of cases occur by 1 year of age.

• Ocular involvement before age 2 occurs in 92%.

– Most often unilateral.

– 50% of patients with ocular involvement have skin lesions.

PATHOPHYSIOLOGY

Believed to result from a granulomatous reaction of histiocytes in response to a nonspecific physical or possibly infectious stimulus.

COMMONLY ASSOCIATED CONDITIONS

• Neurofibromatosis-1

– Inherited disorder in which neurofibromas form in the skin, CNS, and bones.

– Café au lait macules + JXG is associated with epilepsy in 20%.

• Niemann–Pick disease

– A lysosomal storage disease due to acid sphingomyelinase deficiency characterized by cherry red spot, macular halo, optic atrophy

– Systemic manifestations affect the lungs and bone marrow without mental retardation.

• Urticaria pigmentosa

– Common form of cutaneous mastocytosis in which minor skin irritation results in massive mast cell release and urticaria

• Juvenile myelomonocytic leukemia

– Chronic myeloproliferative disorder affecting children age 1–4 years old

DIAGNOSIS

• Cutaneous features of JXG include the following:

– Firm tan-orange papillomacular lesion(s) on the head, neck, trunk, or extremities

– Café au lait spots (20%)

• Ophthalmic features of oculocutaneous and ocular JXG include various degrees of the following:

– Spontaneous hyphema.

– Corneal blood staining.

– Unilateral glaucoma.

– Vascular yellow-brow iris lesion.

– Heterochromia iridis.

– Conjunctival mass.

– Unilateral uveitis.

– Proptosis.

– Cataract.

– Vascular occlusion.

– Retinal detachment.

– Amblyopia.

HISTORY

• Most patients with JXG are asymptomatic.

• Acute pain and photophobia due to secondary glaucoma

PHYSICAL EXAM

• Exam head, neck, trunk, and extremities for cutaneous lesions

• Complete ophthalmic examination for ocular manifestations

DIAGNOSTIC TESTS & INTERPRETATION

Diagnostic Procedures/Other

• Skin biopsy

• Iris biopsy

– Fine-needle biopsy

– Iridectomy

– Iridocyclectomy

Pathological Findings

In ocular JXG, histology reveals Touton giant cells in a background of plasma cells, lymphocytes, and histiocytes. Touton giant cells are present in 85% of cases and appear as a wreath of foamy lipid surrounding a ring of nuclei. Histology may also reveal foam cells and foreign body giant cells. Histiocytes stain with antibodies against factor XIIIa, HAM 56, KP1 (CD 68), HF35, Ki-M1P, vimentin, CD 163, fascin, and CD 14. Histiocytes do not stain with CD 1a or S-100.

DIFFERENTIAL DIAGNOSIS

• Leukemic involvement of the iris

• Iris nevus

• Iris melanoma

• Langerhans cells histiocytosis

• Rhabdomyosarcoma

• Fibrous dysplasia

• Dermoid

• Xanthoma

• Hemangioma

• Neurofibroma

• Molluscum contagiosum

TREATMENT

ADDITIONAL TREATMENT

General Measures

• Systemic corticosteroids

• Rarely immunomodulatory therapy

• Rarely radiation therapy

• Treat spontaneous hyphema with topical cycloplegia and corticosteroids as well as hyphema precautions (wear eye shield, keep head upright, no strenuous lifting, minimize anticoagulants)

• Topical corticosteroids and pharmacologic agents to reduce intraocular pressure should secondary glaucoma develop

• Treat amblyopia, which can result from strabismus or anisometropia due to corneal blood staining, cataract formation, or secondary glaucoma

SURGERY/OTHER PROCEDURES

• Local resection

• Cataract extraction

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Ophthalmologist

• Primary care doctor or dermatologist for periodic skin examinations

PATIENT EDUCATION

• The Histiocytosis Association of America (http://www.histio.org/).

PROGNOSIS

• Normal lifespan, development, intelligence, fertility

• Most cutaneous lesions spontaneous regress

COMPLICATIONS

• Secondary glaucoma

• Profound vision loss

ADDITIONAL READING

• Shields JA, Shields CL. Clinical spectrum of histiocytic tumors of the orbit. Trans Pa Acad Ophthalmol Otolaryngol 1990;42:931–937.

• Wertz FD, Zimmerman LE, McKeown CA, et al. Juvenile xanthogranuloma of the optic nerve, disc, retina, and choroid. Ophthalmology 1982;89:1131–1135.

• Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. Am J Ophthalmol 1965;60:1011–1035.

CODES

ICD9

272.7 Lipidoses

CLINICAL PEARLS

• Suspect JXG in spontaneous hyphema, unilateral glaucoma, or exophthalmos in an infant

• Monitor for secondary glaucoma

• Look for café au lait macules given association with epilepsy

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