Brooke-Spiegler syndrome

Szepietowski, Jacek C.; Wa̧sik, F; Szybejko-Machaj, G; Bieniek, Andrzej; Schwartz, R A

doi:10.1046/j.1468-3083.2001.00181.x

Cited by 4 publications

(6 citation statements)

References 21 publications

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“…Multiple TE first appears during adolescence as small papules on the central face, with predilection for the skin near the nasolabial folds, forehead, chin and periauricular area [6]. The combination of multiple TE with cylindromas and/or spiradenomas can be seen in the Brooke-Spiegler syndrome [7, 8]. …”

Section: Introductionmentioning

confidence: 99%

Dermoscopic and Reflectance Confocal Microscope Findings of Trichoepithelioma

et al. 2007

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Background: Trichoepitheliomas (TE) are benign neoplasms of follicular differentiation. Solitary lesions are often confused with basal cell carcinoma (BCC). Reflectance confocal microscopy (RCM) and dermoscopy are imaging tools for in vivo, noninvasive evaluation of skin lesions. To date, there has been no description of their findings in the evaluation of TE. Objective: Our aim is to describe the dermoscopic and RCM findings of histopathologically confirmed TE. Methods: Four TE were evaluated, 2 each of the desmoplastic and nondesmoplastic variants. RCM was performed on 1 of the desmoplastic and both of the nondesmoplastic lesions. Results: Dermoscopically, all of the lesions showed arborizing telangiectasias. The desmoplastic lesions also had an ivory-white background throughout. RCM showed oval, darker-appearing tumor islands that contained brightly refractile material, consistent with keratin horn cysts at the center, as well as parallel bundles of highly refractile dermal collagen surrounding the tumor islands. Conclusion: The ivory-white background throughout the lesion seen on dermoscopy may be helpful in distinguishing desmoplastic TE from BCC. The RCM findings in TE of keratin-filled cysts in tumor islands and attachment of the tumor to follicular structures have not been previously observed in BCC, and thus may also be diagnostically helpful. Further study is necessary for validation of these findings.

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Section: Introductionmentioning

confidence: 99%

Dermoscopic and Reflectance Confocal Microscope Findings of Trichoepithelioma

et al. 2007

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“…This family may have had the Brooke–Spiegler syndrome that is autosomal dominant and is characterized by cylindromas, trichoepitheliomas and sometimes spiradenomas. The gene for familial cylindromatosis has been localized to 16q12–q13 8 …”

Section: Discussionmentioning

confidence: 99%

“…The differential diagnosis of multiple inherited facial papules includes those entities listed in Table 2 1,8,9 …”

Section: Discussionmentioning

confidence: 99%

Multiple trichoepitheliomas in a mother and daughter

Crotty

Dutta²,

Hogan

2003

Aust J Dermatology

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A 38-year-old mother and her 8-year-old daughter presented with multiple facial papules. In both cases, the papules had started to develop at about the age of 4-5 years. Biopsy of one of the mother's papules revealed a trichoepithelioma. With time the lesions had become less obvious in the mother, so she and her daughter elected to have no treatment. Both mother and daughter were otherwise well. However, there have been rare reports of multiple trichoepitheliomas being associated with systemic conditions. Multiple trichoepitheliomas are inherited in an autosomal dominant manner and have been mapped to chromosome 9p21.

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“…Brooke-Spiegler syndrome (BSS) is a rare, inherited, autosomal dominant disorder characterized by the development of multiple adnexal neoplasms including spiradenomas (from sweat glands), cylindromas (eccrine and apocrine differentiation), trichoepitheliomas (from hair follicles) and major and minor salivary glands neoplasms. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] The syndrome of multiple familial trichoepitheliomas is considered a phenotypic variant of BSS in which patients present with trichoepitheliomas only. 12,13 Although tumours included in the spectrum of this syndrome are usually benign, malignant transformation of cylindromas has been reported; therefore, such cases should be monitored for signs of ulceration, rapid growth, bleeding and formation of blue-pink nodules.…”

Section: Introductionmentioning

confidence: 99%

“…Brooke‐Spiegler syndrome (BSS) is a rare, inherited, autosomal dominant disorder characterized by the development of multiple adnexal neoplasms including spiradenomas (from sweat glands), cylindromas (eccrine and apocrine differentiation), trichoepitheliomas (from hair follicles) and major and minor salivary glands neoplasms . The syndrome of multiple familial trichoepitheliomas is considered a phenotypic variant of BSS in which patients present with trichoepitheliomas only …”

Section: Introductionmentioning

confidence: 99%