What are the other Names for this Condition? (Also known as/Synonyms)

• JXG (Juvenile Xanthogranuloma)
• Nevoxanthoendothelioma
• Xanthoma Multiplex

What is Juvenile Xanthogranuloma? (Definition/Background Information)

• Juvenile Xanthogranuloma (JXG) is a rare benign condition affecting young children, which is characterized by the formation of papules and nodules involving the skin, and rarely, the eye
• The cause of Juvenile Xanthogranuloma is not clearly understood. Examination of the lesions indicate the accumulation of histiocytes (a type of cells), but JXG is not identified with Langerhans cell histiocytosis
• Cutaneous lesions are normally present around the head and neck region, shoulders, and upper torso. In a few cases, tumors may form in the internal organs such as the liver, bones, or lungs
• The lesions are painless and asymptomatic, although they may cause discomfort and severe emotional stress. A diagnosis of Juvenile Xanthogranuloma generally involves a tissue biopsy that is correlated with a study of the presenting symptoms
• In a majority of cases, no treatment is required for Juvenile Xanthogranuloma once the diagnosis is made. Most therapy needed is directed toward the rare instances of lesions in the eyes or internal organs. The prognosis of cutaneous Juvenile Xanthogranuloma is excellent, as most lesions resolve spontaneously

Who gets Juvenile Xanthogranuloma? (Age and Sex Distribution)

• Juvenile Xanthogranuloma is an uncommon condition that is mostly observed in infants and young children. Three-fourths of the cases (75%) are seen within the first 12 months, while 15-30% arise congenitally (present at birth)
• Around 1 in 10 cases are described in adults
• Both males and females may be affected
• All racial and ethnic groups have the same risk for JXG, although more number of cases are reported among Caucasians (fair-skinned individuals)

What are the Risk Factors for Juvenile Xanthogranuloma? (Predisposing Factors)

The following genetic disorders may increase the risk for Juvenile Xanthogranuloma, in some cases:

• Neurofibromatosis type 1 (NF1)
• Neurofibromatosis type 2 (NF2) or neurilemmomatosis 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Juvenile Xanthogranuloma? (Etiology)

The exact cause of development of Juvenile Xanthogranuloma (JXG) is unknown. Even though, JXG is characterized by painless yellow skin lesions, called xanthomas, on the body, it is not associated with a metabolic disorder.

• It is reported that JXG is not identified with Langerhans cell histiocytosis (LCH), which is a non-heritable genetic disorder that causes tumor formation in different body parts. Histiocytosis indicates an accumulation/excess amount of histiocytes (type of cells)
• In JXG, the lipid levels are normal, but they collect along with histiocytes forming papules and nodules in the body. Juvenile Xanthogranuloma is described as a common non-LCH condition. Some studies show increased LDL cholesterol levels in JXG though
• No genetic abnormalities have been specifically noted. But, sometimes, an association with neurofibromatosis type 1 or type 2 (neurilemmomatosis) suggest the involvement of chromosome 17 or chromosome 22
• JXG does not reportedly run in families (i.e., it is not inherited)

What are the Signs and Symptoms of Juvenile Xanthogranuloma?

The signs and symptoms of Juvenile Xanthogranuloma (JXG) may include:

• Presence of benign yellow, cutaneous, painless lesions in the form of papules and nodules, which are the two distinct lesion type noted
  • Papules: These are the most frequently observed form of lesions; anywhere from 10 to 100 papules may be observed all over the body of size 2-5 mm each. They initially form as reddish-brown lesions, but later turn to a dull yellow color
  • Nodules: These are rarer and only a few nodular lesions are noted in many. They are spherical-shaped (round or oval) of size 1-2 cm each; though, some are larger, called giant JXGs. The skin surface of the nodules appear glossy and translucent; the nodules have a reddish-brown to yellow discoloration

• A papule is an area of abnormal skin tissue that is less than 1 centimeter around. Usually a papule has distinct borders, and it can appear in a variety of shapes
• Sometimes, papules in close proximity to each other merge together to form ‘en plaque’
• Solitary tumors form generally away from each other; grouping together is not commonly observed. Older lesions present with fibrosis or thickening and/or scarring
• Both papules and nodules occurring together are unusual and is known as a mixed form
• A small subset of JXG patients also have café-au-lait spots. In these patients it is important to seek out a family history of neurofibromatosis type 1; as well as examining these patients for other signs of NF1. In those rare JXG patients with NF1 also, chronic myeloid leukemia is of a significant risk
• Skin lesions are mostly seen in the upper torso including on the back, chest, shoulders, head and neck region
• After skin, the eye is the most commonly involved organ, seen in less than 0.5 % of the cases. In a majority, only one eye is affected. Orbital Juvenile Xanthogranulomas or Intraocular Juvenile Xanthogranulomas (involving the eye) are mostly solitary lesions
• Appearance of ocular lesions may take place before cutaneous lesions are noted, in many individuals
• The lesions are sometimes observed in the mucosal surfaces and may be present in the internal organs too
• Internal organs that may be occasionally affected by systemic disease with the formation of nodules, include the ovaries and testes, kidneys, large intestine, lungs and pericardium, bones, and the central nervous system (CNS)

Additional signs and symptoms of any underlying condition may be noted.

How is Juvenile Xanthogranuloma Diagnosed?

A diagnosis of Juvenile Xanthogranuloma may involve the following:

• Complete physical examination and a thorough medical history evaluation
• Eye examination
• Liver function test
• Lipid profile test
• Test for blood cholesterol levels
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Note: A biopsy may be performed to rule out other skin conditions with similar signs and symptoms.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Juvenile Xanthogranuloma?

The complications of Juvenile Xanthogranuloma may include:

• Cosmetic concerns and emotional stress; reduced quality of life in some individuals
• Scratching the lesions may lead to bleeding and ulceration, which may result in secondary infections. This may give rise to scar formation on healing
• Vision abnormalities: Lesions affecting the eye may cause bleeding and glaucoma; loss if vision can occur
• Functioning of the internal organs may be affected
• Some individuals are at a high risk for developing chronic myeloid leukemia or urticaria pigmentosa
• Complications may arise from any underlying condition

How is Juvenile Xanthogranuloma Treated?

The treatment for Juvenile Xanthogranuloma may involve the following measures:

• Administration of medications, such as topical corticosteroids (for eye lesions) and systemic steroids (eye lesions or internal organs), if needed
• Ocular lesions may be treated via intralesional steroid injections
• Low-dose radiation therapy for tumors affecting the eye and other organs
• Surgery: Surgical excision and removal of solitary nodules may be undertaken
• The treatment of underlying associated condition may be necessary, if any

How can Juvenile Xanthogranuloma be Prevented?

Currently, there are no known methods available to prevent the occurrence of Juvenile Xanthogranuloma.

What is the Prognosis of Juvenile Xanthogranuloma? (Outcomes/Resolutions)

The prognosis of Juvenile Xanthogranuloma is good with appropriate treatment, as the condition is self-resolving in many individuals, especially children.

• Cutaneous lesions regress and shrink (flatten) over 3-6 years; even internal organ lesions disappear spontaneously
• Rarely, if severe central nervous system (CNS) or liver involvement is present, deaths have been reported
• Regular follow-up, with complete blood count (CBC) and peripheral blood smear examination, are vital during the first 24 months, in order to detect chronic myeloid leukemia (CML) early 

Additional and Relevant Useful Information for Juvenile Xanthogranuloma:

• Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition
• The presence of dirt on the body is not a causative factor for the condition. However, it helps to be clean and hygienic, which may help the condition from getting worse