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Year : 2020  |  Volume : 7  |  Issue : 2  |  Page : 84-87

A rare case of Brooke–Spiegler syndrome

1 Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India
2 Scientist-E, Genetic Research Centre, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Sunanda Mahajan
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai - 400 012, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijdpdd.ijdpdd_18_20

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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.

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