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

• Ancell-Spiegler Cylindromas
• BSS (Brooke-Spiegler Syndrome)
• Turban Tumor Syndrome

What is Brooke-Spiegler Syndrome? (Definition/Background Information)

• Brooke-Spiegler Syndrome (BSS) is a rare, congenital, skin condition that manifests as multiple tumors of hair follicles and sweat glands on the head and neck region. It is similar to multiple familial trichoepithelioma (MFT); however, in this condition, additionally benign and malignant tumors of the salivary glands are occasionally noted
• The tumor is usually present in children and adolescents. The cause of the condition is influenced by genetic factors and having a family history of BSS is a major risk factor, since it is an autosomal dominant condition
• Brooke-Spiegler Syndrome may affect the eye, ear, nose, and other parts of the body. This may result in impaired vision, hearing, and olfactory functions. It can also cause deep emotional stress and trauma due to cosmetic concerns
• There is no cure available for Brooke-Spiegler Syndrome, since it is a genetically inherited disorder. However, appropriate symptomatic treatment may be provided to the affected individuals
• The prognosis of Brooke-Spiegler Syndrome is based on the severity of the disorder. Those with mild signs and symptoms have better prognosis than individuals with severe presentations

Who gets Brooke-Spiegler Syndrome? (Age and Sex Distribution)

• Brooke-Spiegler Syndrome is a rare congenital condition that typically manifest in children and adolescents
• Both males and females may be affected
• Individuals of all racial and ethnic background may be affected

What are the Risk Factors for Brooke-Spiegler Syndrome? (Predisposing Factors)

• The risk factor for Brooke-Spiegler Syndrome is inheritance of a mutation from any of the parent (dominant pattern of inheritance)

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 Brooke-Spiegler Syndrome? (Etiology)

The cause of Brooke-Spiegler Syndrome is due to genetic mutations and abnormalities. It is an autosomal dominant condition.

• The condition is associated with certain genetic alterations, notably involving chromosome 16q12-q13
• Mutations in CYLD gene, which are responsible for cell growth, is reported to be involved. But, not all individuals with BSS have mutations in this gene
• Hence, scientists believe that there may be other mutations that may cause the disorder, which are yet to be determined

The skin condition is not infectious and does not spread from one individual to another through contact.

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Brooke-Spiegler Syndrome?

The signs and symptoms of Brooke-Spiegler Syndrome include:

• The presence of multiple tumors of hair follicles and sweat glands on the skin
• The face, scalp, neck, chest and back are usually involved. But, the tumors may occur anywhere in the body
• In addition to the above, salivary gland tumors (both benign and malignant) may be observed infrequently. These may lead to eating, chewing, and swallowing difficulties. The facial nerve may be affected, in some cases
• Other tumor types that can develop include spiradenoma, cylindroma, and trichoblastoma, in a few cases
• The condition is progressive in nature and the tumor numbers increase with time

For some unknown reason, the severity of symptoms is more in females than in males.

How is Brooke-Spiegler Syndrome Diagnosed?

A diagnosis of Brooke-Spiegler Syndrome may involve a thorough medical history and physical examination of the affected individual.

For tumors of the skin, the following diagnostic tests may be undertaken:

• 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 skin 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
• Testing for genetic mutations

For tumors involving the salivary glands, the following diagnostic tests may be undertaken:

• Plain X-ray of the head and neck region
• Ultrasound scan of the affected salivary gland
• CT or CAT scan with contrast of the head and neck may show a well-defined mass. This radiological procedure creates detailed 3-dimensional images of structures inside the scanned region
• MRI scans of head and neck region: A magnetic field is used to create high-quality pictures of certain parts of the body, such as tissues, muscles, nerves, and bones. These high-quality pictures may reveal the presence of the tumor

Tissue biopsy of the involved salivary gland:

• A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A 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. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
• Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
• Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis

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 Brooke-Spiegler Syndrome?

The complications of Brooke-Spiegler Syndrome may include the following:

• Multiple tumors can affect vision, hearing, smell, and other functions, depending on the body part involved
• Emotional stress and depression due to severe cosmetic concerns
• In some cases, numerous small tumors may entirely cover one’s face and neck region
• Malignant salivary gland tumors may grow and metastasize to other body parts or organs

Note: Since the tumor consist of an increased number of basal cells, the risk for basal cell carcinoma is increased.

How is Brooke-Spiegler Syndrome Treated?

There is no cure for Brooke-Spiegler Syndrome. However, symptomatic treatment for the skin condition may be provided that may include:

• Consultation with a dermatologist is typically required
• Skin-directed therapies
• Surgery for cosmetic issues

In case salivary gland tumors are observed, then the healthcare provider may undertake the following treatment measures:

• Wait and watch approach for small benign tumors
• Surgical excision and tumor removal of large benign tumors and all malignant tumors
• In case of malignancy, additional treatment options, such as chemotherapy and/or radiation therapy, may be considered

Long-term follow-up care with regular screening and check-ups are highly recommended.

How can Brooke-Spiegler Syndrome be Prevented?

Currently, there are no known methods to prevent Brooke-Spiegler Syndrome, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, 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 such as Brooke-Spiegler Syndrome

What is the Prognosis of Brooke-Spiegler Syndrome? (Outcomes/Resolutions)

• The prognosis of Brooke-Spiegler Syndrome depends upon the severity of the signs and symptoms. Individuals with mild symptoms have better prognosis than those with severe skin presentations.
• If malignant salivary gland tumors are observed, then the prognosis of the condition may depend on several factors including on the stage of the condition and overall health of the individual

Additional and Relevant Useful Information for Brooke-Spiegler Syndrome:

• 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