Familial cylindromatosis

Alternate names

BRSS; Spiegler-Brooke syndrome; SBS; Ancell-Spiegler cylindromas; Brooke-Spiegler syndrome; Familial cylindromatosis; Multiple familial trichoepitheliomas

Definition

CYLD cutaneous syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits.

Epidemiology

• The exact number of people with CYLD cutaneous syndrome is unknown.
• It has been estimated that about one in 100,000 people may have this condition.

Cause

• CYLD cutaneous syndrome is caused by the CYLD gene not working correctly.
• DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• CYLD cutaneous syndrome is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one copy of a gene variant is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.
• Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the gene variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Signs and symptoms

Symptoms of CYLD cutaneous syndrome may include:

• Multiple non-cancerous skin tumors
• Cylindromas (smooth, pale pink growths)
• Spiradenomas (painful sweat gland tumor)
• Trichoepitheliomas (small skin-colored growths)
• Salivary gland cancer
• Hearing loss due to tumors in the ear canal
• Tumors usually first appear in adolescence, but may appear later in life.
• The face and scalp are most often affected, but tumors can also grow on the torso, armpits, groin, and genitals.
• In severe cases, tumors may cover the entire scalp.
• The number of tumors increases with age.
• People with CYLD cutaneous syndrome are at increased risk for cancer.
• In addition, they may have psychological and social issues due to multiple facial and scalp tumors.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Cylindroma

30%-79% of people have these symptoms

• Abnormal scalp morphology(Abnormality of the scalp)
• Abnormality of the neck
• Trichoepithelioma

5%-29% of people have these symptoms

• Abnormal bleeding(Bleeding tendency)
• Basal cell carcinoma
• Multiple cutaneous malignancies
• Nodular changes affecting the eyelids(Eyelid nodules)
• Skin ulcer(Open skin sore)
• Skin-colored papule

1%-4% of people have these symptoms

• Abnormality of the [[auditory canal]
• Abnormality of the sublingual glands
• Abnormality of the submandibular glands
• Facial palsy(Bell's palsy)
• Hearing impairment(Deafness)
• Salivary gland neoplasm
• Visual impairment(Impaired vision)

Diagnosis

• CYLD cutaneous syndrome is diagnosed based on the types of tumors, a clinical exam, and may be confirmed by the results of genetic testing.
• Additional testing may include a microscopic examination of a piece of tumor tissue (biopsy).
• The types of tumors found in CYLD cutaneous syndrome include cylindromas, spiradenomas, and trichoepitheliomas.

Treatment

Treatment for CYLD cutaneous syndrome is focused on managing the symptoms. Multiple surgeries may be needed to remove the tumors. Specialists involved in the care of someone with CYLD cutaneous syndrome may include:

• Dermatologist
• Plastic surgeon
• Oncologist
• Psychologist/Psychiatrist

NIH genetic and rare disease info

• NIH info on Familial cylindromatosis

Familial cylindromatosis is a rare disease.

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