Brooke-Spiegler Syndrome
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Mostafa Mirshams Shahshahani
,
Maedeh Rayati Damavandi
,
Kambiz Kamyab
,
Gholam-Reza Maghsoudnia
,
Zeinab Aryianian
Abstract
Introduction: Brooke-Spiegler Syndrome (BSS) is a rare autosomal dominant disease characterized by the development of multiple adnexal cutaneous tumors such as cylindromas, trichoepitheliomas and spiradenomas.Case Description: A 49 years old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and face. Pathologic examination of lesions revealed cylindroma with foci of spiradenoma.Discussion: Brooke-Spiegler Syndrome (BSS) caused by various mutations of the cylindromatosis gene (CYLD), a tumor suppressor gene resulting in multiple cylindromas and trichoepitheliomas. Malignant transformation may develop within solitary cylindromas, but more common in multiple variant and requires careful followup surveillance.Calonj E. Tumours of the Skin Appendages. Rook Textbook of Dermatology. 8 ed2010.
McCalmont T. Adnexal Neoplasms. Bolognia Dermatology Textbook. 2 ed2008.
Ly H, Black MM, Robson A. Case of the Brooke-Spiegler syndrome. Australas J Dermatol. 2004 Nov;45(4):220-2.
Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature. 2003 Aug 14;424(6950):797- 801.
Doherty SD, Barrett TL, Joseph AK. Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. Dermatol Online J. 2008;14(7):8.
Layegh P, Sharifi-Sistani N, Abadian M, Moghiman T. Brooke-Spiegler syndrome. Indian J Dermatol Venereol Leprol. 2008 Nov- Dec;74(6):632-4.
De Francesco V, Frattasio A, Pillon B, Stinco G, Scott CA, Trotter D, et al. Carcinosarcoma arising in a patient with multiple cylindromas. Am J Dermatopathol. 2005 Feb;27(1):21-6.
Kim C, Kovich OI, Dosik J. Brooke- Spiegler syndrome. Dermatol Online J. 2007;13(1):10.
Rallan D, Harland CC. Brooke-Spiegler syndrome: treatment with laser ablation. Clin Exp Dermatol. 2005 Jul;30(4):355-7.
Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, et al. An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol. 2006 Jul;155(1):182-5.
| Files | ||
| Issue | Vol 3 No 1 (2011) | |
| Section | Case Reports | |
| Keywords | ||
| Brook-Spiegler Syndrome Adenoid Cystic Carsinoma Trichoepithelioma | ||
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