Brooke-spiegler syndrome: The impact of a rare disease

Brooke-Spiegler syndrome is a rare autosomal dominant disorder characterised by multiple skin appendage tumours including cylindromas, trichoepitheliomas and spiroadenomas. CYLD is the only known gene associated with this condition. The assessment, diagnosis and management of patients with BSS is often complex requiring a multidisciplinary team approach. We report two cases of Brooke-Spiegler syndrome with the detection of a novel CYLD mutation, contrast their phenotypic differences and explore the psychosocial impact of the disease.

Dr. Mi Vu