Rare Skin Diseases: Turban Tumor (Brooke-Spiegler Syndrome)
https://doi.org/10.23946/2500-0764-2024-9-2-112-117
Abstract
The Brooke-Spiegler syndrome is a rare autosomal dominant disorder characterized by development of multiple skin tumours including multiple cylindromas and trichoepitheliomas. Here we describe a case of 68-year-old man admitted at a consultative appointment into the surgical department of Siberian State Medical University with numerous asymptomatic, skin-coloured, dense smooth papulonodular lesions from 2 to 5 mm diameter over the face and with multiple pinkish dense smooth dome-shaped nodules from 1 to 5 cm over the scalp. The patient has noted their appearance since childhood. Earlier, similar lesions have been observed in his father and grandmother. Histopathological examination classified facial lesions as trichoepitheliomas and defined scalp lesions as cylindromas, thereby confirming the diagnosis of Brooke-Spiegler syndrome.
About the Authors
V. S. Dmitruk
Siberian State Medical University
Russian Federation
Russian Federation
Prof. Vadim S. Dmitruk, MD, DSc, Professor, Department of Dermatology, Venereology and Cosmetology
2/7, Moskovskiy Trakt, Tomsk, 634050
V. G. Martynova
Siberian State Medical University
Russian Federation
Russian Federation
Dr. Valentina G. Martynova, MD, PhD, Associate Professor, Department of Dermatology, Venereology and Cosmetology
2/7, Moskovskiy Trakt, Tomsk, 634050
S. A. Khardikova
Siberian State Medical University
Russian Federation
Russian Federation
Prof. Svetlana A. Khardikova, MD, DSc, Professor, Department of Dermatology, Venereology and Cosmetology
2/7, Moskovskiy Trakt, Tomsk, 634050
K. A. Skrylova
Siberian State Medical University
Russian Federation
Russian Federation
Dr. Ksenia A. Skrylova, MD, PhD, Assistant Professor, Department of Dermatology, Venereology and Cosmetology
2/7, Moskovskiy Trakt, Tomsk, 634050
V. I. Shirshkova
Siberian State Medical University
Russian Federation
Russian Federation
Dr. Veronika I. Shirshkova, MD, Assistant Professor, Department of Dermatology, Venereology and Cosmetology
2/7, Moskovskiy Trakt, Tomsk, 634050
References
1. Kazakov DV, McKee P, Michal M, Kacerovska D. Cutaneous Adnexal Tumors. Lippincott Williams and Wilkins Health, Philadelphia; 2012.
2. WHO. Classification of Tumours. 4th ed. 2018. Vol. 11. Available at : https://publications.iarc.who.int/Book-And-Report-Series/Who-Classification-Of-Tumours/WHO-Classification-Of-SkinTumours-2018. Accessed: 01 May, 2024.
3. Tse JY, Hoang MP. A review and update of skin appendage neoplasms and associated genetic syndromes. Expert Rev Dermatol. 2014;7(3):235-245.
4. Kazakov DV, Carlson JA, Vanecek T, Kacerovska D, Spagnolo DV, Michal M. Benign and maligant neoplasms in a series of 85 patients with Brooke-Spiegler syndrome, including the phenotype of multiple familial trichoepitheliomas. Mod Pathol. 2010;90(23):117A.
5. Zarbo RJ, Ricci A Jr, Kowalczyk PD, Cartun RW, Knibbs DR. Intranasaldermal analogue tumor (membranous basal cell adenoma). Ultrastructure and immunohistochemistry. Arch Otolaryngol. 1985;111(5):333-337.
6. Zaballos P, Gómez-Martín I, Martin JM, Bañuls J. Dermoscopy of Adnexal Tumors. Dermatol Clin. 2018;36(4):397-412. https://doi.org/10.1016/j.det.2018.05.007
7. 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.
8. Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH. Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. Arch Dermatol. 2009;145(11):1277-84. https://doi.org/10.1001/archdermatol.2009.262
9. Aguilera CA, De la Varga Martínez R, García LO, Jiménez-Gallo D, Planelles CA, Barrios ML. Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with BrookSpiegler Syndrome. Indian J Dermatol. 2016;61(5):580. https://doi.org/10.4103/0019-5154.190127
10. Rajan N, Trainer AH, Burn J, Langtry JA. Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. Dermatol Surg. 2009;35(5):845-52. https://doi.org/10.1111/j.1524-4725.2009.01142.x
11. Karalija A, Andersson MN. The surgical treatment of familial cylindromatosis through subgaleal scalp excision. Case Reports Plast. Surg. Hand Surg. 2015;2(3-4):57-9. https://doi.org/10.3109/23320885.2015.1054392.
Review
For citations:
Dmitruk V.S., Martynova V.G., Khardikova S.A., Skrylova K.A., Shirshkova V.I. Rare Skin Diseases: Turban Tumor (Brooke-Spiegler Syndrome). Fundamental and Clinical Medicine. 2024;9(2):112-117. (In Russ.) https://doi.org/10.23946/2500-0764-2024-9-2-112-117
Views:
291
Email this article 