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Year : 2012  |  Volume : 4  |  Issue : 1  |  Page : 29-31  

Brooke-Spiegler syndrome: A rare entity

Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Date of Web Publication12-May-2012

Correspondence Address:
Manish Bansal
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-7753.96084

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Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors including multiple cylindromas, trichoepitheliomas and spiradenomas. A 35-year-old female presented with multiple asymptomatic nodular lesions over face and scalp since the age of 5 years. There were no complaints suggestive of systemic involvement. Her son, elder sister, younger sister, father, father's sister, and grandmother had history of similar lesions. On examination, there were multiple asymptomatic skin-colored firm papulonodular lesions measuring from 2 to 8 mm in diameter, with smooth surface mainly affecting central part of face. Scalp showed pinkish, firm, smooth-surfaced, dome-shaped nodules measuring about 1 to 3 cm in size. Histopathological examination was consistent with trichoepitheliomas for the facial lesions and cylindromas for the scalp lesions. The diagnosis of BSS was thus confirmed.

Keywords: Brooke-Spiegler, cylindromas, trichoepithelioma

How to cite this article:
Manchanda K, Bansal M, Bhayana AA, Pandey S S. Brooke-Spiegler syndrome: A rare entity. Int J Trichol 2012;4:29-31

How to cite this URL:
Manchanda K, Bansal M, Bhayana AA, Pandey S S. Brooke-Spiegler syndrome: A rare entity. Int J Trichol [serial online] 2012 [cited 2023 Jan 31];4:29-31. Available from: https://www.ijtrichology.com/text.asp?2012/4/1/29/96084

   Introduction Top

 Brooke-Spiegler syndrome More Details (BSS) known as familial autosomal dominant cylindromatosis is a rare disorder characterized by various adnexal tumors including cylindromas, trichoepitheliomas, and spiradenomas. Other associated tumors are trichoblastomas, basal-cell carcinomas, follicular cysts, and organoid nevi. [1],[2] We are reporting the case due to its rarity.

   Case Report Top

A 35-year-old female presented with multiple asymptomatic nodules which started over face and gradually increased in size and number since age of 5 years [Figure 1]a. Few nodules appeared over scalp 5 years back and gradually increased in size [Figure 1]b. Her son, younger and elder sister, father, father's sister, and grandmother had history of similar lesions [Figure 1]c & d and [Figure 2]. On examination, multiple, asymptomatic, skin-colored, firm, papulonodular lesions measuring from 2 to 8 mm with smooth surface were present on central part of face [Figure 1]a. Scalp showed pinkish, firm, dome-shaped nodules with smooth surface measuring about 1 to 3 cm [Figure 1]b. No abnormality was detected on systemic examination. Routine blood and urine examination were normal. Histopathological examination of punch biopsy sample from lesion over face showed basaloid inclusions with multiple immature hair follicles and abundant stroma, thus confirming the diagnosis of trichoepithelioma [Figure 3]a. The lesions over scalp showed well-circumscribed epithelial neoplasm in mid and deep dermis comprising of basaloid cells arranged in closely crowded reticulated pattern giving a jigsaw puzzle appearance. Within these nodules, several scattered ductal structures lined by eosinophilic cuticle and pink colloidal intracytoplasmic bodies were present. These findings were consistent with the diagnosis of cylindroma [Figure 3]b. Based on clinical and histopathological features, diagnosis of BSS was made. As the only concern of patient was regarding cosmetic appearance, she was referred to plastic surgeon for excision of nodular lesions.
Figure 1: (a) Multiple skin-colored papulonodular lesions affecting forehead, upper lip, nasolabial folds (arrow). (b) Single, smooth surfaced, skin colored dome shaped nodule over scalp (arrow). (c) Similar lesions in elder sister (arrow). (d) Similar lesions in her son (arrow)

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Figure 2: Family pedigree showing seven members in four successive generations affected with the disease

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Figure 3: (a) Basaloid inclusions with immature hair follicles and abundant stroma which is consistent with trichoepithelioma (hematoxylin and eosin, original magnification ×100). (b) Wellcircumscribed epithelial neoplasm in mid to deep dermis with basaloid inclusions, giving a jigsaw puzzle appearance which is diagnostic of cylindromas (hematoxylin and eosin, original magnification ×100)

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   Discussion Top

BSS is an autosomal dominant disease characterized by multiple adnexal neoplasia particularly cylindromas, trichoepitheliomas, spiradenomas located on head and neck. Women are commonly affected, usually in third or fourth decade of life. [1],[2] They are occasionally present in association with basal cell adenomas of the parotid glands, milia, organoid nevi, and basal cell carcinomas. A defect in the differentiation of folliculo-sebaceous-apocrine unit is considered in the pathogenesis. [3] The susceptibility locus has been mapped to chromosome 16q12-q13 and mutations in the cylindromatosis tumor - suppressor gene have been implicated in the phenotype diversity. [4],[5] Cylindromas occur as numerous papules, nodules, or tumors distributed over scalp and sometimes on face and trunk. [2] Malignant transformation to cylindrocarcinomas is rare. [6] Trichoepitheliomas are skin-colored papules distributed on face with a predilection for nasolabial folds, forehead, chin, and preauricular area. [2] Histopathology of various adnexal tumors is characteristic and diagnostic. Cylindromas show a well-circumscribed lesion composed of tumor islands and cords of basaloid cells arranged in a jigsaw puzzle like pattern. [7] Histopathologically, trichoepithelioma is aggregations of relatively monomorphic basaloid (germinative) cells in dermis surrounded by fibrous stroma. [7]

Treatment modalities for cylindromas include excision, dermabrasion, electrodessication, Carbon dioxide (CO 2 ) laser, cryotherapy, and radiotherapy. Considering the high recurrence and risk of malignant transformation, wide local excision is the preferred treatment. [8] Medical treatments like sodium salicylate and prostaglandin A1, which restore growth control by inhibiting NF-kB activity, are being tried in few cases. [9]

   References Top

1.Layegh P, Sharifi-Sistani N, Abadian M, Moghiman T. Brooke-Spiegler syndrome. Indian J Dermatol Venereol Leprol 2008;74:632-4.  Back to cited text no. 1
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2.Taylor RS, Perone BJ, Kaddu S, Kerl H. Appendage Tumors and Hamartomas of the Skin. In: Fitzpatrick TB, Wolff K, Goldsmith AL, Gilchrest AB, Paller SA, Leffell JD, editors. Dermtology in General Medicine. 7 th ed. New York, NY: Mc-Graw-Hill; 2008. p.1068-87.  Back to cited text no. 2
3.Szepietowski JC, Wasik F, Szybejko-Machaj G, Bieniek A, Schwartz RA. Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol 2001;15:346-9.  Back to cited text no. 3
4.Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gürer MA, et al. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J Invest Dermatol 2003;121:732.  Back to cited text no. 4
5.Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, et al. Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: Evidence of diverse somatic mutations in the same patient regardless of tumor type. Diagn Mol Pathol 2010;19:83-91.  Back to cited text no. 5
6.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;27:21-6.  Back to cited text no. 6
7.Ahmed SS, Priore DJ, Seykora TJ. Tumors of the epidermal appendages. In: Elder DE, Elenitsas R, Johnson BL, Murphy GF, editors. Lever's Histopathology of the skin. 10 th ed. Philadelphia: Lippincott Williams and Williams; 2009. p. 851-909.  Back to cited text no. 7
8.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;35:845-52.  Back to cited text no. 8
9.Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature 2003;424:797-801.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3]

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