Brooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome.
Publication/Presentation Date
1-1-2021
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.
Volume
2021
First Page
7118260
Last Page
7118260
ISSN
2090-6463
Published In/Presented At
Patel, H., Naber, W., Cusick, A., & Oser, C. (2021). Brooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome. Case reports in dermatological medicine, 2021, 7118260. https://doi.org/10.1155/2021/7118260
Disciplines
Medicine and Health Sciences
PubMedID
34258080
Department(s)
Fellows and Residents
Document Type
Article