Skin Biopsy for the Diagnosis of EDS

A skin biopsy can be useful in diagnosing Ehlers-Danlos syndrome (EDS) — a group of similar genetic conditions that affect the connective tissue that provides strength and integrity to the skin, bones, blood vessels, and organs.

Defects in the connective tissue in EDS can be visualized in the skin under a microscope. A skin sample also can be used for genetic testing — at least 19 different genes are associated with the disease — to determine the type of EDS a patient has.

If the healthcare team suspects EDS based on the individual’s symptoms and medical history, a skin biopsy may be recommended.

What is a skin biopsy?

A skin biopsy is a procedure in which a small sample of skin is removed from the patient’s body. The sample is then examined under a microscope to see any abnormalities.

There are three main types of skin biopsy, differentiated by the procedure used to obtain the skin sample: a punch biopsy, a shave biopsy, and an excisional biopsy.

The skin is made up of multiple layers, including the epidermis (outermost layer), the dermis (middle layer), and the hypodermis (the innermost layer). In a punch biopsy, a circular instrument is used to take a deep layer of the skin with all the three layers. For a shave biopsy, a razor-like tool is used to obtain a small section from the upper layers of the skin. In an excisional biopsy, a scalpel or small knife is used to excise an area of the skin.

Before the procedure

Bleeding disorders or certain medications may cause complications during a skin biopsy. Therefore, the doctors should be informed before the procedure about any bleeding disorders, history of excessive bleeding, skin infections, or the use of medications such as blood thinners, diabetes medications, or immunosuppressants.

During the procedure

Depending on the location of the skin biopsy recommended by the doctor, the patient may be asked to change into a clean gown. The skin will be cleaned and the area to be biopsied will be marked.

Skin biopsy is usually performed under local anesthesia. An injection may be used for this. There may be some temporary tingling sensation during the procedure, which may cause some discomfort, but this will eventually subside.

The procedure takes about 15 minutes.

The skin sample is sent to the laboratory for testing. Based on the type of skin biopsy and tests being performed, the results may take several weeks to come back.

After the procedure

The biopsy can leave a scar and may take several weeks to heal. It may occasionally bleed, but if bleeding is prolonged, the doctor should be informed.

The biopsy site should be washed gently and kept dry to prevent any infection and support healing.

Other information

Skin biopsy is a relatively safe procedure. In rare cases, some complications may occur, which include allergic reactions to the anesthetic, scarring, bleeding, or infection.

Skin biopsy also is performed for the diagnosis of several other conditions, including melanoma and other skin conditions.


Last updated: Oct. 21, 2019.


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