Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome
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...
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Wiley
2021-01-01
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| Series: | Case Reports in Dermatological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2021/7118260 |
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| author | Harsh Patel William Naber Austin Cusick Craig Oser |
| author_facet | Harsh Patel William Naber Austin Cusick Craig Oser |
| author_sort | Harsh Patel |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dedf2e46af864aa784c74011ea3c381e |
| institution | Kabale University |
| issn | 2090-6463 2090-6471 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dermatological Medicine |
| spelling | doaj-art-dedf2e46af864aa784c74011ea3c381e2025-02-03T01:27:19ZengWileyCase Reports in Dermatological Medicine2090-64632090-64712021-01-01202110.1155/2021/71182607118260Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial SyndromeHarsh Patel0William Naber1Austin Cusick2Craig Oser3Ohio University, Heritage College of Osteopathic Medicine, 191 W Union St, Athens, OH 45701, USAOhio University, Heritage College of Osteopathic Medicine, 191 W Union St, Athens, OH 45701, USARiverside Methodist Hospital, 3535 Olentangy River Rd., Columbus, OH 43214, USAOser Plastic Surgery and Med Spa, 1 Robinson Plaza Suite 230, Pittsburgh, PA 15205, USABrooke–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.http://dx.doi.org/10.1155/2021/7118260 |
| spellingShingle | Harsh Patel William Naber Austin Cusick Craig Oser Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome Case Reports in Dermatological Medicine |
| title | Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome |
| title_full | Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome |
| title_fullStr | Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome |
| title_full_unstemmed | Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome |
| title_short | Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome |
| title_sort | brooke spiegler syndrome familial cylindromatosis a rare variant of a rare familial syndrome |
| url | http://dx.doi.org/10.1155/2021/7118260 |
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