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

• Disseminated Xanthosiderohistiocytosis
• Montgomery Syndrome
• Xanthogranuloma Disseminatum

What is Xanthoma Disseminatum? (Definition/Background Information)

• Xanthoma Disseminatum (XD) is an exceedingly rare disorder that manifests as widespread and numerous yellowish cutaneous lesions (known as xanthomas) on the body
• The predisposing factors and cause of Xanthoma Disseminatum are presently not well-established. It is not known to be associated with any lipid processing disorder
• Xanthoma Disseminatum is generally observed in young individuals (children and adults) with more number of cases being reported among males. The lesions are usually painless and numerous, appearing in patches. They can be present anywhere in the body; commonly on the skin folds, back, chest, shoulders, face and neck region
• The treatment for Xanthoma Disseminatum involves treating the skin lesions and providing systemic therapy. The skin lesions may be treated through laser therapy, cryosurgery, or surgery. Corticosteroids, chemotherapy, or radiation therapy, may be necessary for systemic involvement of XD
• The prognosis of Xanthoma Disseminatum is assessed on a case-by-case basis. It chiefly depends on the subtype of XD such as self-healing type, persistent type, or progressive systemic type. The condition may last anywhere between 2 to 40 years. Occasionally, fatalities have been reported

Who gets Xanthoma Disseminatum? (Age and Sex Distribution)

• Xanthoma Disseminatum is a very rare condition that is generally observed in children and young adults (age category 5 to 25 years); about 60% of the cases are reported in this age group
• Both males and females may be affected, although a male predominance is reported
• Individuals of all racial and ethnic background may be affected. Worldwide, no geographical localization has been reported

What are the Risk Factors for Xanthoma Disseminatum? (Predisposing Factors)

• Currently, the risk factors for Xanthoma Disseminatum are not well-established. A family history of the condition is not noted
• An association with certain hematological conditions, such as multiple myeloma, monoclonal gammopathy, and Waldenström macroglobulinemia, has been observed

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 Xanthoma Disseminatum? (Etiology)

The cause of development of Xanthoma Disseminatum (XD) is not clearly understood.

• Xanthoma Disseminatum is not associated with a metabolic disorder. In this condition (XD), the lipid (type of fat) levels are observed to be normal
• XD may be described as a non-Langerhans cell histiocytosis condition. Langerhans cell histiocytosis 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)
• Research is being performed to better understand the cause of Xanthoma Disseminatum

What are the Signs and Symptoms of Xanthoma Disseminatum?

The signs and symptoms of Xanthoma Disseminatum may include:

• Presence of numerous small cutaneous lesions spread all over the body; over 100 may be observed
• The lesions appear in the form of tiny, well-defined papules and nodules
• The skin folds are involved in almost all cases; the lesions may merge at these locations to form patchy plaques
• Extensive involvement of the body skin is seen that appear as irregular patches of thickened skin
• The body sites mainly affected include the head and neck region (including the eyelids), shoulders, armpits, upper back and chest, along  the bends of joints, groin and buttocks
• The skin lesions may not present any pain, but may initially appear as inflammatory red skin patches, which later become discolored to yellow, brown-orange, or deep red
• The xanthomas are generally arranged symmetrically on the body
• In one-third of the individuals, involvement of mucosal surfaces of the mouth, nose, and eyes are noted. Inside the mouth, the lesions appear as warts, a condition described as verruciform xanthoma
• Diabetes insipidus develops due to brain involvement, in around 40% of the individuals with XD
• Many internal organs, such as the kidneys, liver, and lungs, may be affected

How is Xanthoma Disseminatum Diagnosed?

A diagnosis of Xanthoma Disseminatum (DPX) may involve the following tests and exams:

• A thorough medical history and physical examination
• Liver function test
• Lipid profile test
• 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 Xanthoma Disseminatum?

The complications of Xanthoma Disseminatum may include:

• Eating and chewing difficulties, if lesions are present in the mouth
• 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 including loss of vision
• Functioning of the internal organs may be affected
• Severe involvement of respiratory, gastrointestinal, and central nervous systems may occur
• Formation of new lesions at other body sites, or recurrence of xanthomas after treatment
• Side effects of treatment

Death may occur on account of severe complications in Xanthoma Disseminatum.

How is Xanthoma Disseminatum Treated?

The treatment measures for Xanthoma Disseminatum may involve:

• Treatment of skin lesions that include:
  • Application of topical creams containing trichloroacetic acid (TCA)
  • Ablative laser therapy
  • Dermabrasion and chemoabrasion
  • Electrocoagulation
  • Cryosurgery
  • Surgical excision and removal, if necessary
• Treatment for systemic involvement of body that include:
  • Administration of systemic steroids
  • Use of lipid-lowering medications, if needed
  • Low-dose radiation therapy
  •  Chemotherapy
  •  A study of 5 patients showed a response to 2-chlorodeoxyadenosine (2-CdA)
  • Use of immune suppressing agents
  • Bone marrow transplantation, for severe cases

Follow-up care with regular screening and check-ups are very important.

How can Xanthoma Disseminatum be Prevented?

Currently, there are no known methods available to prevent the occurrence of Xanthoma Disseminatum.

What is the Prognosis of Xanthoma Disseminatum? (Outcomes/Resolutions)

The prognosis of Xanthoma Disseminatum (XD) depends on the type of condition and the symptoms that manifest.

• Individuals, who are affected by the self-resolving form of XD, typically have an excellent prognosis. The skin lesions are known to regress and disappear with adequate treatment; sometimes, even in the absence of any treatment
• Individuals, who are affected by the persistent form of XD, may have longstanding skin lesions that do not respond well to treatment. A majority of the cases fall under this subset
• Individuals, who are affected by the rare but progressive form of XD, show systemic involvement with several body organs being severely affected. In such cases, the quality of life is severely affected and deaths have been reported

Additional and Relevant Useful Information for Xanthoma Disseminatum:

• 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