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Brooke-Spiegler syndrome

What is Brooke-Spiegler? syndrome?

Brooke-Spiegler syndrome (BRSS or BSS) is rare genetic condition that results in a variety of tumors arising from the skin appendices (hair follicle tumors and sweat gland tumors). The syndrome includes limited variants, family cylindromatosis and multiple familial trichoepitheliomas (MFT1).

What causes Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepitheliomas are due to germ line mutations in cylindromatosis (CYLD) gene in chromosome 16q12. These disorders have a autosomal dominant inheritance, meaning that half of an affected person's children will also have the condition.

CYLD works as a tumor suppressor gene and has regulatory functions in development, immunity and inflammation. To date, a total of 51 germline CYLD mutations have been found. A wide range of ethnic and racial backgrounds have been reported in affected patients and families.

What are the characteristics of Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome causes predisposition to three types of benign skin appendix tumor.

  • Cylindromas: solitary or multiple tumors on the scalp

  • Trichoepitheliomas – skin color papules on the central face

  • Spiradenomas – painful nodules in head, neck and trunk

Brooke-Spiegler syndrome is also infrequently associated with saliva and parotid gland tumors

The limited forms of the disease are:

  • Familial cylindromatosis: characterized by cylindromas alone; and;
  • Multiple familial trichoepitheliomas: characterized by single trichoepitheliomas.

Affected individuals typically present from late childhood to early adulthood with multiple papules and nodules on the scalp, face, and neck. They develop an increasing number of injuries over time. However, there is wide variability of presentation within and between families with Brooke-Spiegler syndrome.

Although the tumors are generally considered harmless, there are reports of evil one transformation.

  • Spiradenoma can transform into spiradenocarcinoma.
  • Cylindroma can transform into cylindrocarcinoma.
  • Trichoepithelioma can transform into basal cell carcinoma.

How was the diagnosis made?

Brooke-Spiegler syndrome may be suspected if there is a family history of multiple benign skin tumors.

Cylindromas, trichoepitheliomas, and spiradenomas are difficult to distinguish clinically. Therefore the skin biopsy It is required to confirm the diagnosis.

What treatment is available for Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome is not curable. Possible treatment options for individual tumors include:

  • Excision
  • Electrosurgery
  • Dermabrasion
  • Erbium: yttrium-aluminum-garnet (Er: YAG) To be
  • Carbon dioxide laser resurfacing
  • Cryotherapy
  • Radiotherapy.