Juvenile Xanthogranuloma JXG
Juvenile xanthogranuloma, also known as JXG, is a rare, non-Langerhans-Cell Histiocytosis that is usually benign and self-limiting. It occurs most often in the skin of the head, neck, and trunk but can also occur in the arms, legs, feet, and buttocks. JXG can affect the eye, most commonly in young children with multiple skin lesions. Less commonly JXG may involve locations such as the lung, liver, adrenal gland, appendix, bones, bone marrow, pituitary gland, central nervous system, kidney, heart, small and large intestines, and spleen.

JXG involves the over-production of a kind of histiocyte called a dendritic cell (not a macrophage). These cells then accumulate and lead to various symptoms, depending on location. The cause of this disease is not known.

This disease may have been first reported by Rudolf Virchow in 1871 and again in 1905 by H.G. Adamson. In 1954, it was named juvenile xanthogranuloma to reflect the appearance of the cells under a microscope.

JXG mainly affects infants and small children with an average age of 2 years, although it can also occur in adults of all ages. Usually it presents as a single skin lesion, which varies in size, but children less than 6 months of age are more likely to have multiple lesions. It occurs at birth in about 10% of patients and more males are affected than females. When JXG occurs in adults, it tends to be more complicated and is not known to spontaneously improve. The total number of patients with JXG is not known, but it may be higher than reported since this disease is sometimes misdiagnosed or may spontaneously improve in children.

Skin lesions are self-limited and rarely require treatment in most patients. Those with large abdominal masses, liver, bone marrow, or central nervous system involvement may do well with treatment such as chemotherapy similar to that used for Langerhans Cell Histiocytosis. Because this disease is so rare, no large studies have been performed, and there is no established, proven treatment for the more complicated cases.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

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Juvenile xanthogranuloma (JXG)
The questions below specifically relate to Juvenile xanthogranuloma (JXG).

1. What causes juvenile xanthogranuloma (JXG)?
JXG involves the over-production of a kind of histiocyte called a dendritic cell. What triggers these cells to accumulate is not known.

2. Is there a cure for JXG?
We usually do not use the term “cure” with this disease, although most patients with only skin or soft tissue JXG have spontaneous remission over time without treatment. Children with liver, bone marrow, CNS involvement and masses in the abdominal cavity usually survive with chemotherapy treatment. There is no established period of inactive disease before JXG is considered cured.

3. What are the different therapies/treatments commonly used to treat JXG?
Patients with a single lesion or just a few lesions, as well as children with skin-only JXG often require no therapy. Surgical removal may be required if the mass is causing organ dysfunction. A small percentage of patients with rapidly growing disease may require treatment with chemotherapy or low-dose radiation, however there is no agreed standard. Steroids have been used to treat eye lesions and in some cases low dose radiation has been effective in preventing visual loss.

4. Can an infant be tested at birth for JXG?
A biopsy of the affected tissue, rather than a blood test, is required for diagnosis and would therefore not be appropriate as a routine test unless this disease is suspected.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

Help ensure that we can continue to bring you this vital informational material, make a donation today

Juvenile xanthogranuloma Newsfeed

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Related Articles

Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.

Mod Pathol. 2017 Jul 28;:

Authors: Paxton CN, O'Malley DP, Bellizzi AM, Alkapalan D, Fedoriw Y, Hornick JL, Perkins SL, South ST, Andersen EF

Abstract
Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy. Though molecular studies have provided evidence of clonality in juvenile xanthogranuloma, in support of a neoplastic process, little is known about the genetic profile of juvenile xanthogranuloma. We used molecular inversion probe array technology to evaluate the genomic characteristics (copy number alterations or copy neutral-loss of heterozygosity) of 21 archived cases of juvenile xanthogranuloma (19 solitary, 1 diffuse cutaneous, 1 systemic). Four cases (19%) showed acquired, clonal alterations. Two lesions from a case of diffuse cutaneous juvenile xanthogranuloma showed distinct profiles: JXG-1a contained trisomy 5 and 17 and JXG-1b contained loss of heterozygosity in 5q. The systemic juvenile xanthogranuloma (JXG-2) showed multiple genomic alterations. Only two of 19 solitary juvenile xanthogranulomas showed abnormal genomic profiles: JXG-3 showed gains on 1q and 11q and JXG-4 showed a 7.2 Mb loss in 3p. No recurrent abnormalities were observed among these cases. The presence of non-recurrent copy number alterations in a subset of samples implies that copy number changes are unlikely driving pathogenesis in juvenile xanthogranuloma, but may be acquired during disease progression. The presence of genomic abnormalities in more advanced cases (ie, systemic and diffuse cutaneous juvenile xanthogranuloma) supports this notion, particularly as the advanced cases of juvenile xanthogranuloma presented more genomic complexity.Modern Pathology advance online publication, 28 July 2017; doi:10.1038/modpathol.2017.50.

PMID: 28752840 [PubMed - as supplied by publisher]

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