Brooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome.
Journal
Case reports in dermatological medicine
ISSN: 2090-6463
Titre abrégé: Case Rep Dermatol Med
Pays: United States
ID NLM: 101591808
Informations de publication
Date de publication:
2021
2021
Historique:
received:
20
04
2021
revised:
16
06
2021
accepted:
18
06
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34258080
doi: 10.1155/2021/7118260
pmc: PMC8245218
doi:
Types de publication
Case Reports
Langues
eng
Pagination
7118260Informations de copyright
Copyright © 2021 Harsh Patel et al.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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