Cylindroma

What is Cylindroma?

Cylindromas, also known as cutaneous cylindromas, are rare skin tumors that typically grow slowly within the lower layer of skin, the dermis. These tumors originate from the cells likely related to sweat glands found within the hair follicle. When looked at in cross-section, cylindromas have a round shape similar to a cylinder, which is how they got their name. Most of the time, cylindromas are harmless and remain small in size. Yet, in very rare cases, they can turn into malignant tumors and spread to other parts of the body. This is especially true if there are multiple cylindromas, like in Brooke-Spiegler syndrome.

Cylindromas mostly grow on the scalp or face and are usually seen in women, about nine times more often than in men. In the past, when multiple cylindromas grouped together on the scalp, they would sometimes merge together to form a mass that looked like a turban, which led to the term “turban tumor.” This term is no longer used because of its negative implications. Understanding the close relationship between cylindromas and another type of skin tumor called spiradenomas is crucial because they often occur together and are related to various genetic syndromes characterized by abnormal cell growth from sweat gland cells.

What Causes Cylindroma?

Cylindromas, a type of skin growth, can appear either randomly or due to inherited genes, and they are generally not thought to be caused by environment. When they pop up at random, it’s typically as a single growth. This sporadic type often involves a process where two genes, called MYB and NFIB, merge together. This fusion forms an oncoprotein that may promote abnormal cell growth or cancers. If the MYB gene is overactive or expressed in large amounts, it can cause cylindromas just like the combined MYB-NFIB oncoprotein can.

Inherited cylindromas are connected with changes in a gene known as CYLD. This gene works normally to prevent tumors from developing. However, in rare cases, these syndromes don’t involve changes in the CYLD gene. The CYLD gene was recognized in 2000 as the cause in three specific inherited conditions which all involve cylindromas. The best-known one of these is called Brooke-Spiegler syndrome. The other two are familial cylindromatosis and a condition called multiple familial trichoepitheliomas. These diseases all involve changes in the CYLD gene and are passed from parent to child in a dominant way. This means only one parent needs to have the gene for a child to potentially develop the condition. However, a second random mutation caused by DNA damage is needed for abnormal cell growth to happen.

While the CYLD mutation is autosomally dominant, meaning it can be passed from a parent to a child, how this gene mutation appears or manifests can vary greatly. With ongoing research, over 100 mutations in the CYLD gene have been discovered. The most common mutation happens on chromosome 16q. But it’s still not clear which mutations will cause specific symptoms or characteristics. Even within the same family, family members affected often show different types of symptoms or characteristics.

Risk Factors and Frequency for Cylindroma

Cutaneous cylindromas are rare skin conditions that mostly affect females, particularly of Caucasian descent. They are nine times more common in women than in men. When these conditions appear as lone lesions, they are typically random occurrences. These occur more often in older individuals. Nonetheless, they can sometimes show up in one’s 20s or 30s as multiple lesions, particularly in relation to skin syndromes such as Brooke-Spiegler syndrome.

These cylindromas can also be linked to similar conditions like spiradenomas, trichoepitheliomas, and salivary gland tumors, for instance, parotid tumors. In these genetic syndromes, the tumors usually start to appear around puberty and continue into adulthood, with additional lesions developing over different areas of the body. The scalp, however, is the most common spot. As a rule, single lesions found in older adults aren’t as likely to be connected to a syndrome. On the other hand, numerous lesions are more likely to be linked with a syndrome and often appear at an earlier age.

Signs and Symptoms of Cylindroma

Cylindromas, or round nodular lesions, can appear as solitary or multiple skin growths. Solitary lesions are usually found in older individuals, growing slowly and painlessly, typically not exceeding one centimeter in size. They appear as pinkish or tan nodules with a smooth surface and can have small blood vessels visible on the surface. These solitary growths tend to occur most frequently on the scalp but can also emerge in the nasal area or along ducts like the parotid duct. And while they commonly appear on the head and neck, they can occur virtually anywhere on the body.

• Solitary lesions are common in older adults
• They grow slowly and are usually painless
• Commonly found on the scalp, but can occur anywhere on the body
• They are pinkish or tan with a smooth surface
• They rarely grow larger than one centimeter

Total collections of cylindromas most likely emerge as part of a familial syndrome and develop earlier in life. These multiple lesions may require surgical removal and possibly subsequent surgeries, as they can redevelop or progress into cancer. In patients with the syndrome, cylindromas can grow rapidly, sometimes exceeding 20 centimeters, causing them to ulcerate and become painful. Most cylindromas—90%, to be exact—appear in the head and neck region. That said, they can also occur on the body and limbs, though the palms and soles typically stay clear. Having multiple cylindromas can indicate Brooke-Spiegler syndrome, a hereditary condition caused by mutations in the CYLD gene that leads to multiple tumors.

• Multiple cylindromas often appear as part of a syndrome
• They develop early in life
• They require surgical removal and can redevelop or turn malignant
• In syndrome patients, cylindromas can grow rapidly and become painful
• Mostly occur in the head and neck region but can develop elsewhere on the body
• Observing multiple lesions can indicate Brooke-Spiegler syndrome

Testing for Cylindroma

Tumors often start showing up on the scalp and face, but they can also appear on the body and even in areas that aren’t exposed to the sun, like the underarms and genital region. A few people might even develop tumors in their salivary glands. In rare cases, these tumors can occur in the large airways of the lungs, leading to breathing difficulties. Although these tumors are usually harmless, they can occasionally become cancerous.

If your doctor suspects you have a cylindroma – one type of these tumors – then a biopsy, or tissue sample, will be taken. Under examination, the sample will usually show several rounded lumps in the deeper layers of your skin. These lumps are made up of several small nests of cells with a characteristic pattern that looks like a jigsaw puzzle. A pinkish membrane typically surrounds this pattern.

Radiology, such as X-rays or MRIs, might be used to help figure out how far the tumors have spread. That’s because these tumors are known to sometimes affect the bones underneath them and can have a lot of blood vessels in them. Knowing this is crucial for planning treatment, especially considering these tumors could be associated with other types of tumors like those in the parotid – a type of salivary gland.

Genetic testing could also be used on individuals suspected to have cylindromatosis syndrome. This syndrome is related to the CYLD cylindromatosis gene. It is important to conduct this test along with studying the individual’s family health history.

Treatment Options for Cylindroma

Treatment options for these types of medical conditions can include removal (excision), laser treatment, or freezing the affected area (cryotherapy). The preferred approach, however, is usually excision, and this often cures the condition. There have been few instances where the condition returned after treatment.

For large lesions, it’s helpful to get an image of the area before deciding on the treatment to see the blood supply and how much the surrounding tissues, including the underlying bone structures, are involved.

If a patient has multiple or large cylindromas, it’s important to reduce the blood supply to these areas before treatment to limit blood loss during surgery. This process is called embolization and it’s especially important because these lesions can have a lot of blood vessels.

Aspirin, applied directly to the skin, has been used to prevent the condition from returning after it’s been surgically removed.

After excision, the removed tissue should be examined under a microscope. Together with the symptoms the patient is experiencing, this should provide enough information to make the correct diagnose.

What else can Cylindroma be?

Trichoepitheliomas and spiradenomas are two types of skin conditions that often occur together and may look very similar. They can be told apart by the presence of horn cysts found in trichoepitheliomas but not in spiradenomas. Spiradenomas can sometimes be very hard to distinguish from another skin condition called cylindromas, as they may appear very similar under examination. Spiradenomas typically appear as solitary, circumscribed, and nodular lesions that are often tender and intermittently painful, unlike cylindromas, which are mostly painless. A detailed study of the tissue (histopathological examination) is essential in complex cases in order to tell them apart.

In rare instances, cylindromas may turn into malignancies or cancerous growths. This is more common in individuals with Brooke-Spiegler Syndrome. These malignant cylindromas grow more quickly and display unusual and asymmetrical formation. They may invade surrounding tissues and even spread to other parts of the body known as metastasis. Features that may hint at malignancy include changes in the appearance of the nucleus of the cells (nuclear pleomorphism), overcrowding of cells, the disappearance of the typical jigsaw puzzle pattern of the cells and certain other features. Staining the tissue for a pathologist to study it closely under a microscope does not usually help to distinguish between benign (non-cancerous) or malignant cylindromas.

What to expect with Cylindroma

Cylindromas are mostly harmless lumps, but in rare cases, they might turn harmful or malignant. There are instances where these growths have transformed into a type of cancer known as adenoid cystic carcinoma, or they’ve spread to delicate areas like the nasal passage or a small pouch near the eye called the lacrimal sac. It’s more common to find malignant cylindromas in people who have Brooke-Spiegler Syndrome.

These harmful cylindromas usually grow rapidly and display unusual and asymmetrical features. They also tend to invade surrounding tissue. When a cylindroma turns malignant, changes at the cellular level occur. These can include irregularities and overcrowding in the nucleus of the cell, loss of a characteristic arrangement pattern, disappearance of protective layers, loss of two distinctive cell types, and the onset of cell death. Malignant cylindromas also show aggressive growth into nearby tissues and can spread to other parts of the body.

However, identifying whether a cylindroma is benign or malignant is a challenging task, even when using special stains for laboratory testing of the tissue.

Possible Complications When Diagnosed with Cylindroma

Problems connected to cylindromas, a type of skin tumor, normally occur due to surgery. These issues can include bleeding, scarring, the tumor coming back, pain, and the possible need for additional procedures. In cases where a person’s family has a history of these tumors, and if the tumors are big and numerous, there may be physical disfigurement or pain. However, most research shows that these tumors usually don’t come back once they are removed surgically.

Common Problems Associated with Cylindromas:

• Bleeding
• Scarring
• Recurrence of the tumor
• Pain
• The potential need for additional procedures
• Physical disfigurement in familial cases
• Low recurrence rate after removal

Preventing Cylindroma

If a patient comes in with numerous cylindromas (a type of skin tumor), they should be sent for genetics advice and testing. This is because they may have a hereditary condition called Brooke-Spiegler syndrome.