Document Type
Article
Publication Title
Case Reports in Dermatological Medicine
Abstract
Brooke-Spiegler Syndrome (BSS) is a rare autosomal dominant familial disorder resulting in dermatologic neoplasms of copious nodular appendages. Here, we report a case of Familial Cylindromatosis (FC), a subtype of BSS, in a patient with the largest cylindroma of 7.4 × 5.6 × 3.8 cm on the scalp. The patient had undiagnosed cylindromas growing for 36 years at presentation; however, he did not seek out healthcare evaluation. Excision and pathologic investigation of three large masses from different body sites determined a shared phenotype of cylindromas. Subsequent evaluation of the patient's son separately, after primary patient excision, confirmed cylindroma development as well. The pathologic evidence of cylindromas in the patient with a new history of family incidence confirmed the diagnosis of the FC variant of BSS.
First Page
7118260
Last Page
7118260
DOI
10.1155/2021/7118260
Publication Date
1-1-2021
Recommended Citation
Patel H, Naber W, Cusick A, Oser C. Brooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome. Case Rep Dermatol Med. 2021 Jun 23;2021:7118260. doi: 10.1155/2021/7118260. PMID: 34258080; PMCID: PMC8245218.