Familial Cylindromatosis and Brooke-Spiegler Syndrome

Rajan, Neil; Trainer, Alison H.; Burn, John; Langtry, J.A.A.

doi:10.1111/j.1524-4725.2009.01142.x

Cited by 31 publications

(8 citation statements)

References 26 publications

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“…As patients with Brooke-Spiegler Syndrome usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Although the main aim of surgery is tumor removal, taking wide surgical margins in order to prevent recurrence may not be feasible in patients with multiple lesions [25].…”

Section: Discussionmentioning

confidence: 99%

Observations on Four Cases of Brooke–Spiegler Syndrome

Leventer¹,

Coltoiu²,

Zota³

et al. 2020

Reports

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Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.

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Section: Discussionmentioning

confidence: 99%

Observations on Four Cases of Brooke–Spiegler Syndrome

Leventer¹,

Coltoiu²,

Zota³

et al. 2020

Reports

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“…Considering the high recurrence and risk of malignant transformation, wide local excision is the preferred treatment. [8] Medical treatments like sodium salicylate and prostaglandin A1, which restore growth control by inhibiting NF-kB activity, are being tried in few cases. [9]…”

Section: Discussionmentioning

confidence: 99%

Brooke-Spiegler syndrome: A rare entity

et al. 2012

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Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors including multiple cylindromas, trichoepitheliomas and spiradenomas. A 35-year-old female presented with multiple asymptomatic nodular lesions over face and scalp since the age of 5 years. There were no complaints suggestive of systemic involvement. Her son, elder sister, younger sister, father, father's sister, and grandmother had history of similar lesions. On examination, there were multiple asymptomatic skin-colored firm papulonodular lesions measuring from 2 to 8 mm in diameter, with smooth surface mainly affecting central part of face. Scalp showed pinkish, firm, smooth-surfaced, dome-shaped nodules measuring about 1 to 3 cm in size. Histopathological examination was consistent with trichoepitheliomas for the facial lesions and cylindromas for the scalp lesions. The diagnosis of BSS was thus confirmed.

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“…Although local excision has commonly been employed in the treatment of solitary adnexal tumors of the face, head, and neck, alternative treatments, including electrosurgery, cryosurgery, and ablation with neodymium‐doped YAG and carbon dioxide (CO 2 ) laser therapy have also been described 7–11 . Rallan and Harland reported the treatment of multiple facial trichoepitheliomata, tumors with similar histologic characteristics to trichblastomas, using a combination of Er:YAG and CO 2 laser ablation 12 .…”

Section: Discussionmentioning

confidence: 99%