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...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 2349-6029 2349-6029 10.4103/ijdpdd.ijdpdd_18_20 |