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

• Tubero-Eruptive Xanthoma
• TX (Tuberoeruptive Xanthoma)

What is Tuberoeruptive Xanthoma? (Definition/Background Information)

• Tuberoeruptive Xanthoma (TX) is the formation of lesions/nodules on skin due to a variety of rare metabolic disorders such as familial dysbetalipoproteinemia and secondary hyperlipidemia
• The abnormal cutaneous lesions, known as xanthomas, mostly form around the elbow and knee joints, and on the foot. Tuberoeruptive Xanthomas are observed in both children and adults
• Tuberoeruptive Xanthoma develops secondary to abnormalities in fat/lipid metabolism, which takes place due to an underlying metabolic disorder. The skin lesions are benign, but may present cosmetic issues
• In a majority of cases, treatment of the underlying condition through diet control, exercises, and prescription medications, is undertaken. The xanthomas may be treated through laser therapy or surgery, if required
• The prognosis for Tuberoeruptive Xanthoma is good with suitable treatment of the underlying condition causing the skin lesions. However, there is a chance of recurrence following treatment, if lipid levels are not kept under control

Who gets Tuberoeruptive Xanthoma? (Age and Sex Distribution)

• Tuberoeruptive Xanthoma is an uncommon condition that is observed in children and adults
• Both males and females may be affected
• Individuals of all racial and ethnic background may be affected. Worldwide, no geographical localization has been reported

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

The predisposing factors that result in Tuberoeruptive Xanthoma may include:

• Familial hypercholesterolemia
• Familial dysbetalipoproteinemia (type III): It is reported that up to 65% of the individuals with this disorder may have tuberous or Tuberoeruptive Xanthomas
• Sitosterolemia
• Use of certain medications
• Poorly-controlled diabetes
• Nephrotic syndrome
• Hypothyroidism
• High-fat diet and lack of physical activities/exercise
• High BMI levels: Obesity or overweight conditions
• Excess consumption of alcohol

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 Tuberoeruptive Xanthoma? (Etiology)

The cause of development of Tuberoeruptive Xanthoma is due to abnormal levels of lipids/cholesterol in blood.

• It may be described as the skin manifestation of inherited metabolic disorders including familial dysbetalipoproteinemia, familial hypercholesterolemia, or acquired forms of hyperlipidemia
• When the metabolism of fat/lipid is affected, lipids in blood combine with certain proteins to form water-insoluble lipoproteins, which accumulate beneath the skin to form xanthomas

What are the Signs and Symptoms of Tuberoeruptive Xanthoma?

The signs and symptoms of Tuberoeruptive Xanthoma may include:

• Presence of small- to medium-sized round or oval shaped papulo-nodules that are firm to touch
• The well-defined lesions may extend deep into the skin (subcutaneous nodules)
• The lesions appear inflamed with shiny reddish discoloration
• Many small nodules may merge together form a solitary large tuberous xanthoma
• Some lesions are isolated and spaced far away from each other
• The lesions are usually painless; some are tender to touch
• The tumors may frequent the back of the elbows, area around the kneecap, heel and feet soles, buttocks, and scalp

Additional signs and symptoms of the underlying/associated condition may be noted.

How is Tuberoeruptive Xanthoma Diagnosed?

A diagnosis of Tuberoeruptive Xanthoma may involve the following:

• A thorough medical history and physical 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 Tuberoeruptive Xanthoma?

The complications of Tuberoeruptive Xanthoma may include:

• The presence of multiple lesions may result in cosmetic concerns and emotional stress
• Scratching the lesions may lead to bleeding and ulceration, which may result in secondary infections. This may give rise to scar formation on healing
• Formation of new lesions at other body sites, or recurrence of xanthomas after treatment
• Complications that arise from the underlying genetic or metabolic disorder

How is Tuberoeruptive Xanthoma Treated?

The primary treatment of Tuberoeruptive Xanthoma involves treating the underlying metabolic disorder. The treatment measures may involve:

• Undertaking treatment for the underlying condition causing Tuberoeruptive Xanthoma through:
  • Appropriate diet and exercising
  • Weight control, for obese or overweight individuals; maintaining a healthy weight
  • Prescription oral or intravenously-administered medications for diabetes
  • Undergo follow-up tests and checkups to ensure that blood lipid/cholesterol levels are controlled
  • Avoiding or minimizing alcohol intake; quitting smoking
• Treatment of skin lesions may involve (if necessary):
  • Chemodestruction with application of trichloroacetic acid (TCA)
  • Laser therapy
  • Surgical excision and removal of large-sized tumors, if necessary

How can Tuberoeruptive Xanthoma be Prevented?

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

• If there is a family history of the underlying condition causing Tuberous Xanthoma, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Having a low-fat diet and adequate physical activities/exercises to maintain optimal weight are beneficial in controlling blood lipid/cholesterol levels

Regular tests and periodic checkups to monitor the condition are recommended following treatment.

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

• The prognosis of Tuberoeruptive Xanthoma is good with appropriate treatment of the underlying metabolic disorder. Even though genetic metabolic disorders are incurable, the xanthomas are known to regress with appropriate therapy
• Inherited metabolic disorders, such as dysbetalipoproteinemia or hypercholesterolemia, may increase the risk for cardiovascular diseases to a great extent

Additional and Relevant Useful Information for Tuberoeruptive Xanthoma:

• 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