Brooke-Spiegler Syndrome
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1 Brooke-Spiegler Syndrome A Case Report Ching-Hao Chang Hsin-Chun Ho Hong-Shang Hong Brooke-Spiegler syndrome is a rare autosomal dominantly inherited disease characterized by the development of multiple cutaneous trichoepitheliomas and cylindromas. We report a 35-year-old woman with multiple cylindromas on the scalp and the trunk, and multiple trichoepitheliomas on her face. Family history of the patient revealed that several of her relatives had similar cutaneous lesions. The diagnosis of Brooke-Spiegler syndrome is established by her typical clinical and histopathologic features. To our knowledge, most reported cases are Caucasians. Herein we report a case of such syndrome in Taiwanese. (Dermatol Sinica 21 : 25-32, 2003) Key words: Brooke-Spiegler syndrome, Cylindroma, Trichoepithelioma Brooke-Spiegler ( 21 : 25-32, 2003) ( trichoepithelioma) ( cylindroma) 1 Brooke Spiegler From the Department of Dermatology, Chang Gung Memorial Hospital-Taipei Accepted for publication: May 30, 2002 Reprint requests:hsin-chun Ho, M.D., Chang Gung Memorial Hospital, 199, Tun-Hua North Road, Taipei, Taiwan, R.O.C. TEL: ext.3397 FAX:
2 Fig. 2 One of the scattered, pinkish dome-shaped, smooth nodules on the scalp. Fig. 1 Numerous rounded, skin-colored, firm papules mainly on the nasolabial fold, nose, and upper lip. 1, 2 1, 2 16q12-q13 3 ( nasolabial fold) ( Fig.1) (Fig.2) Fig. 3 The pinkish smooth nodule on the abdomen 26
3 Fig. 4 The tumor was composed of lobules of epithelial cells surrounded by prominent hyaline sheath and seemed to fit together like pieces of a jigsaw puzzle. (H & E stain, x100) 1.5 (Fig.3) H&E ( hyaline sheath) (Fig.4) ( hyaline droplets) (Fig.5) (Fig.6) (Fig.7) Fig.5 At high magnification, the lobules contained two types of cells: small and hyperchromatic nuclei were in a palisade arrangement at the periphery and large, light staining nuclei were in the center. Droplets of hyalin were also present. (H & E stain, x400) Fig.6 Tubular lumina were also found in the center of lobule. (H & E stain, x400) 27
4 (Fig.8) Fig.7 Typical features of trichoepithelioma: tumor islands composed of basophilic cells with peripheral palisading in a fibroblastic stroma and horn cysts. (H & E stain, x200) 1,2 Brooke Spiegler Ancell Spiegler 1899 (endothelioma capitis) 4 P 28
5 Brooke 1892 (epithelioma adenoids cysticum) 4 Fordyce (multiple benign cystic epithelioma) 4 Ancell- Spiegler Brooke-Fordyce Friboes Brooke-Spiegler 1-7 8, Brooke- Spiegler 1,8 Crains 91% 9 " "("turban tumor") 9 Brooke- Spiegler 2 mm 8 mm 10,11 (spiradenoma) (basal cell carcinoma) (milia) 7 (solitary lung cylindroma) (basal cell adenoma of parotid gland) 12,13 PAS (diastase-resistant) 1,8,9 (pieces of a jigsaw puzzle) 1,8,9 29
6 ( Fig.6 ) 8 (lamina densa) 14 1,8, , ,16 Gerretsen % 17 10% 9 9, (cellular atypia) (polymorphism) (expression) (penetrance) 1-7 Welch 4 Gerretsen 18 Biggs CYLD 16q12-q
7 3 3,19,20,21 CYLD 20 CYLD 22 9p21 10,11 CYLD 16q12-q13 (folliculosebaceous apocrine unit) 2,7 8,9,17 " " 23 Mohs 8 (debulking) References 1. Burrows NP, Jones RR, Smith NP: The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke- Spiegler syndrome): a report of two families. Clin Exp Dermatol 17: , Weyers W, Nilles M, Eckert F, et al.: Spiradenomas in Brooke-Spiegler syndrome. Am J Dermatopathol 15: , Fenske C, Banerjee P, Holden C, et al.: Brooke-Spiegler syndrome locus assigned to 16q12-q13. J Invest Dermatol 114: , Welch JP, Wells RS, Kerr CB: Ancell- Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity. J Med Genet 5: 29-35, Delfino M, D'Anna F, Ianniello S, et al.: 31
8 Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). Dermatologica 183: , Schirren CG, Worle B, Kind P, et al.: A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. J Cutan Pathol 22: , Puig L, Nadal C, Fernandez-Figueras MT, et al.: Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. Am J Dermatopathol 20: 56-60, Lo JS, Snow SN, Mohs FE: Cylindroma treated by Mohs micrographic surgery. J Dermatol Surg Oncol 17: , Guzzo C, Johnson B: Unusual abdominal location of a dermal cylindroma. Cutis 56: , Chao-Ming Chao, Chin-Yao Wang, The-Lu Chu: Multiple familial trichoepithelioma. Dermatol Sinica 17: , Centurion SA, Schwartz RA, Lambert WC: Trichoepithelioma papulosum multiplex. J Dermatol 27: , Vernon HJ, Olsen EA, Vollmer RT: Autosomal dominant multiple cylindromas associated with solitary lung cylindroma. J Am Acad Dermatol 19: , Jungehulsing M, Wagner M, Damm M: Turban tumour with involvement of the parotid gland. J Laryngol Otol 113: , Weber L, Wick G, Gebhart W, et al.: Basement membrane components outline the tumour islands in cylindroma. Br J Dermatol 111: 45-51, Pizinger K, Michal M: Malignant cylindroma in Brooke-Spiegler syndrome. Dermatology 201: , Lotem M, Trattner A, Kahanovich S, et al.: Multiple dermal cylindroma undergoing a malignant transformation. Int J Dermatol 31: , Gerretsen AL, van der Putte SC, Deenstra W, et al.: Cutaneous cylindroma with malignant transformation. Cancer 72: , Gerretsen AL, Beemer FA, Deenstra W, et al.: Familial cutaneous cylindromas: investigations in five generations of a family. J Am Acad Dermatol 33: , Biggs PJ, Wooster R, Ford D, et al.: Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nat Genet 11: , Biggs PJ, Chapman P, Lakhani SR, et al.: The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene 12: , Bignell GR, Warren W, Seal S, et al.: Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25: , Leonard N, Chaggar R, Jones C, et al.: Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours. J Clin Pathol 54: , Freedman AM, Woods JE: Total scalp excision and auricular resurfacing for dermal cylindroma (turban tumor). Ann Plast Surg 22: 50-57, Martins C, Bartolo E: Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. Dermatol Surg 26: ,
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