International Journal of Trichology

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

Brooke-Spiegler syndrome: A rare entity


Kajal Manchanda, Manish Bansal, Aakash Amar Bhayana, SS Pandey 
 Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Correspondence Address:
Manish Bansal
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005, Uttar Pradesh
India

Abstract

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«SQ»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.



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 2020 Apr 8 ];4:29-31
Available from: http://www.ijtrichology.com/text.asp?2012/4/1/29/96084


Full Text

 Introduction



Brooke-Spiegler syndrome (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



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}{Figure 2}{Figure 3}

 Discussion



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]

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