Brooke-Spiegler Syndrome: A Rare Entity

Brooke-Spiegler syndrome is a rare entity. It is an autosomal dominant syndrome in which multiple trichoepitheliomas, cylindromas, or other adnexal tumors are seen. Very few cases of Brooke-Spiegler syndrome are reported in the literature. We came across a 40？-year-old female in which multiple trichoepitheliomas and cylindromas were seen on scalp. In view of clinical history and histopathological examination it was diagnosed as Brooke-Spiegler syndrome. We report this case because of its rarity. 1. Introduction Brooke-Spiegler syndrome was reported for the first time in 1842 by Ancell [1]. It is an autosomal dominantly inherited syndrome, characterised by multiple skin appendageal tumors [2]. More than 50 cases of Brooke-Spiegler syndrome are reported in the literature so far. 2. Case Report We report a case of 40-year-old female who presented to our hospital with the clinical complaint of multiple papulonodular lesions on the scalp, ranging in size from ？cm to ？cm for 1 year. Her mother also had similar lesions on face. She had no clinical symptoms associated with it. She came for cosmetic concerns and the gradual increase in size of the lesion. The largest lesion was excised and was sent to the histopathology department (Figure 1). Figure 1: Papulonodular lesion on the scalp. Gross-examination showed skin covered tissue. External surface showed the presence of some hairs. On microscopy, histopathological features of both trichoepithelioma and cylindroma were seen in the same lesion. Features favouring cylindroma included islands of basaloid cells surrounded by hyalinized material. These basaloid cells were arranged in jigsaw-puzzle-like architecture and enclosed lumina at few places. The cells in the periphery of islands were darker, and those in the center were lighter in color (Figure 2(a) to 2(d)). The histological feature suggestive of trichoepithelioma included epithelial elements arranged to form immature hair germ cells, papillary mesenchymal bodies known as follicular papillae, and horn cysts along with lace-like reticular basaloid structures (Figure 3). Thus, the diagnosis of collision tumor (cylindroma and trichoepithelioma) was made and a possibility of Brooke-Spiegler syndrome was suggested on the basis of history and histopathological examination. Figure 2: Histology of lesion. Figure 3: Cell nests, horn plugs, immature germ cells, and follicular papillae, surrounded by fibrotic and hyalinized stroma (HE 100X). Inset shows high power view of follicular papillae (HE 400X). 3. Discussion The association of multiple cylindromas, as an