Juvenile xanthogranuloma (JXG) can affect the skin only, the eye, and/or other locations in the body such as the lung, liver, adrenal gland, appendix, bones, bone marrow, pituitary gland, central nervous system, kidney, heart, small and large intestines, and spleen. The skin is the most common location of involvement and often does not require treatment. Eye lesions may or may not occur in the presence of skin involvement. Eye involvement with JXG needs to be treated to prevent visual problems. Systemic JXG, where lesions are present in more than one organ or body system, has been reported only in single- or small-case studies and usually requires treatment.
In one study of 129 patients (Kiel Pediatric Tumor Registry), 71% of the cases were diagnosed within the first year of life, and 81% were single skin lesions. There is an overall rate of 7% to 10% of patients (including adults) with multi-system JXG. Children younger than 6 months are more likely to have multiple lesions.
Skin lesions usually do not have symptoms such as pain or itching. They present as reddened, yellowish or brownish, slightly raised, and rubbery bumps on the skin. They may also appear in the fat layer beneath the skin.
JXG involving the eye, which is the second most common location, usually affects the iris, which is the colored, ring-shaped part of the eye. Lesions can, however, occur in other parts of the eye including the eyelid or inside of the eye, usually on one side only. Approximately one-half of patients with eye involvement also have skin lesions. Eye lesions are less likely to improve without treatment than skin involvement and can progress without treatment.
Because many patients with JXG of the eye are without symptoms, the diagnosis may be delayed and/or difficult. Eye lesions may be discovered by accident, often noted by watchful parents or the primary care physician. It is generally recommended that young children with multiple skin lesions be seen by an ophthalmologist every 3 months until 3 years of age.
Other symptoms related to JXG depend on the location of the disease. For example, if the bone marrow is involved, patients may have abnormalities in blood counts. Liver involvement can cause abnormalities in blood liver tests, as well as an elevated inflammation level (sedimentation rate) in the blood. Pituitary gland involvement can lead to diabetes insipidus.
It is important to remember that the diagnosis of JXG cannot be made on symptoms alone as it may present very similarly to LCH. It is therefore necessary to consult a knowledgeable physician to receive a thorough work-up and accurate diagnosis.