A rare case of Brooke–Spiegler syndrome
| Autor: | Dhanjit Kumar Das, Anuja Sunkwad, Sunanda Mahajan, Jayati Shailesh Dave |
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| Rok vydání: | 2020 |
| Předmět: |
Mutation
medicine.medical_specialty business.industry brooke–spiegler syndrome spiradenoma Brooke-Spiegler syndrome Rare entity Chromosome General Medicine lcsh:RL1-803 medicine.disease_cause medicine.disease Dermatology cylindroma Rare case Cylindroma Trichoepithelioma trichoepithelioma lcsh:Dermatology medicine cylindromatosis gene business Spiradenoma |
| Zdroj: | Indian Journal of Dermatopathology and Diagnostic Dermatology, Vol 7, Iss 2, Pp 84-87 (2020) |
| ISSN: | 2349-6029 |
| DOI: | 10.4103/ijdpdd.ijdpdd_18_20 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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