A rare case of Brooke–Spiegler syndrome

Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant inherited disorder characterized by multiple skin appendageal tumors. The predominant tumors can be a cylindroma, trichoepithelioma, and/or spiradenoma. Here we report this rare entity of Brooke–Spiegler syndrome in a 50 year old female on the basis of clinico-histopathological correlation. The gene responsible for this condition is cylindromatosis gene (CYLD1) which has been mapped on chromosome 16q12–q13. However, no mutation have been detected in CYLD gene analyzed in our patient which indicates lack of genotype–phenotype correlation in this patient.

Abstract licence: CC BY-NC-SA

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