Brooke-Spiegler Syndrome: A Rare Entity

Abstract

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.

A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl

“…To date, different therapeutic approaches have been implemented. However, surgical excision remains the gold standard with the lowest rate of relapse compared to dermabrasion, electrodessication, cryotherapy, radiotherapy, argon, and CO 2 lasers [ 18 ].…”

Brooke-Spiegler Sydrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

“…1,3,8 These mutations are found roughly in 80-85% of BSS cases. 7 However, in the remaining cases one should take into account that de novo mutations of other germline genes, alterations in noncoding regions, large chromosomal rearrangements or deletions, or other changes not detected by conventional sequencing can be present.…”

“…They are usually poorly differentiated, and show overlapping cytomorphological and immunohistochemical features of apocrine and eccrine lineage. 8,9 Nevertheless, Sellheyer recently proposed that spiradenomas and cylindromas are not sudoriparous but poorly differentiated follicular tumors derived from the hair follicle bulge. He based his proposal on the increased expression of CD200 in both types of lesions whereas, in his extensive study, he had shown that tumors classified as eccrine in lineage (hidradenoma, poroma, dermal duct tumor, and hidroacanthoma simplex) were CD200 negative.…”

“…Trichoepitheliomas classically occur as skin coloured papules of the midface, mainly on the nose and nasolabial folds. 1,2,8 Microscopically they consist of uniform basaloid cells with peripheral palisading arranged in variably sized nodules or nests, frequently in a cribriform pattern and with central keratinization of the infundibular type keratinization. These cells are surrounded by a dense stroma containing papillary mesenchymal bodies.…”

“…The most common ablative therapies consist of classical excision, dermoabrasion, CO 2 or erbium-YAG lasers, or cryotherapy. 5,8 In the case of cylindromas, enucleation has been successfully used for simultaneous but minimally aggressive removal of multiple lesions. 13 Total scalp excision followed by combined reconstruction with artificial dermis and split skin graft has been used in turban tumor cases, with good results.…”