Medical Definition of Brooke-Spiegler Syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 7/10/2019

Brooke-Spiegler syndrome: Multiple tumors arising from structures in the skin such as hair follicles and sweat glands characterize the syndrome. Mutations in a gene known as CYLD cause Brooke-Spiegler syndrome. These mutations are inherited in an autosomal dominant manner, meaning only one copy of the defective gene is necessary to cause the condition. However, a second non-inherited mutation is necessary for the development of the skin tumors. The skin tumors that occur in Brooke-Spiegler syndrome are usually benign but are occasionally malignant, or cancerous. Trichoepitheliomas, spiradenomas, and cylindromas are among the types of skin and skin appendage tumors that occur in people with this condition.

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Reviewed on 7/10/2019
References
United States. "Genetic and Rare Diseases Information Center. "Brooke-Spiegler Syndrome." July 1, 2019. <https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome>.