What Is Xanthelasma?
Xanthelasma is a rare disease that affects one out of every 1,000 people. It is caused by a genetic mutation. A person with xanthomasia has no hair follicles (hair) in their scalp or face. They have small patches of skin that are covered with white hairs. This condition occurs mostly in children and young adults between the ages of 15 and 30 years old.
The cause of this disorder is unknown. There are several theories, but there isn’t any proof yet. Some doctors believe it could be due to a problem in the development of the brain during fetal life.
Other doctors think it might be related to certain chemicals found in the mother’s blood during pregnancy. However, these theories aren’t proven either.
Symptoms of Xanthelasma
In most cases, xanthomasia doesn’t affect the eyes or other parts of the body. It mostly causes white lumps (nodules) to grow on the eyelids. They are most often found near the corners of the eyes (called peri-orbital).
These lumps are non-cancerous and slow growing. They are usually small and firm to the touch. It is possible for these nodules to bleed if someone mishandles them or picks at them.
Other symptoms of this disorder can include:
Loss of eyebrow hair
White spots on the skin (caused by small white hairs)
Itching and irritation around the eyes
Tightness and swelling of the skin around the eyes
Blocked tear ducts (where tears drain)
In some cases, xanthomasia can also affect other parts of the body. It mostly occurs on the scalp, hands, forearms, and torso. It can also affect the mouth, lips, vocal cords, and tongue.
This rare form of xanthomasia is called generalised xanthomasia.
How Is It Diagnosed?
This condition is usually diagnosed by a medical professional during a routine check-up. An eye doctor (ophthalmologist) will carefully examine the eyes to see if there are any lumps on or near the eyes.
A dermatologist can also make this diagnosis. This type of specialist looks for skin problems. They will examine the patient’s skin and perform a biopsy of the nodules.
This is the only way to know for sure if the lumps are xanthelasma.
How Is It Treated?
There isn’t any specific treatment or cure for xanthomasia. However, there are ways to control and manage this condition. Treatment usually involves debulking surgery to remove excess lumps from the skin. Fortunately, not all nodules need to be removed. Sometimes, it is enough to just treat the symptoms.
It is important to remember that the lumps aren’t harmful and aren’t cancerous. The lumps grow from around the eyes, but don’t spread to other parts of the body. There is also no evidence to suggest that this condition is hereditary.
It is not likely to be passed on from one generation to another.
How Can You Prevent It?
There isn’t any known way to prevent xanthomasia. Most doctors believe it is caused by genetics and other factors during fetal development.
Being born with this condition isn’t a death sentence though. The lumps aren’t cancerous and can be removed if necessary. Most people with xanthomasia live a long and healthy life.
It is important for people with this condition to have regular eye exams to ensure their eyesight remains good enough to function in everyday life.
Questions You Should Ask Your Doctor
Here are some questions you should ask your doctor about xanthomasia:
What is the likelihood of my child passing this condition on to his or her children?
Should my child’s partner be screened for this condition?
Is there a family history of this condition in my family?
Should I take special care if I have this condition?
How is this condition treated?
Should I be worried about this condition?
What kinds of tests do I need?
Don’t hesitate to ask any other questions you have.
Key points about xanthomasia
Xanthomasia or xanthelasma is a rare genetic condition that causes non-cancerous lumps around the eyes.
It can also cause lumps in the mouth, armpits, groin area, and upper arms.
Most people with this condition lead healthy and normal lives. Some people may also require treatment to remove excess lumps from their skin.
Because this condition can run in families, some people may choose to get screened.
If you think you or your child may have this condition, don’t hesitate to see a doctor or dermatologist. Early detection and diagnosis is key to preventing any complications.
Learn more about xanthomasia
Last updated December 13, 2018. If you have any questions about xanthomasia, please contact us.
Article last updated: December 13, 2018.
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Sources & references used in this article:
The pathogenesis and clinical significance of xanthelasma palpebrarum by R Bergman – Journal of the American Academy of Dermatology, 1994 – Elsevier
Diffuse normolipemic plane xanthoma: generalized xanthelasma by J ALTMAN, RK Winkelmann – Archives of dermatology, 1962 – jamanetwork.com
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