Tuberous Sclerosis

Nickel, Walter

doi:10.1001/archderm.1962.01590020049006

Cited by 185 publications

(34 citation statements)

References 10 publications

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“…However, the characteristic cells are seen in a high number of the gingival fibromatoses which occur predominantly in older age groups. Furthermore, cells with a similar morphology are reported in the fibrous tissue covering impacted permanent second premolars (13), in various cutaneous tumors, hamartomas, or reactive hyperplasias (8,12,14,15,18,20), and in lesions on glans penis (1). Thus it seems reasonable to hypothesize that the characteristic cells are part of a nonspecific reaction in fibrous hyperplasias as suggested by REGEZI et al (16).…”

Section: Discussionmentioning

confidence: 89%

Oral fibrous hyperplasias containing stellate and multinucleated cells

Reibel

1982

European J Oral Sciences

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Reibel, J.: Oral fibroos hyperplasias containing stellate and multinucleated cells. Scand. J. Dent. Res. 1982: 90: 217-226. Abstract -In an attempt to clarify whether the so-called "giant-cell fibroma" is a separate entity among fibrous hyperplasias and tumors, 1550 oral fibroas hyperplasias were reviewed for the presence of stellate and multinucleated cells. In 5% ofthe lesions stellate and multinucleated cells Wicre a dominant feature of the histologic picture. A surprisingly high number of hyperpiasias of the tuberosities {gingivai fibromatoses) were found to contain the characteristic cells. (31 %). On the basis, ofthe varying nature of the lesions and the range of ages at which the stellate and multinucleated cells are found, these lesions should not be regarded as neoplastic in nature or as belonging to a separate en tit)'. Furthermore, based on differences in fiber pattern and iocalizadon ofthe characteristic cells, it is suggested that the stellate and multinydeated cells are active cells, possibly involved in the synthesis of eoUagen and/or ground substance.

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Section: Discussionmentioning

confidence: 89%

Oral fibrous hyperplasias containing stellate and multinucleated cells

Reibel

1982

European J Oral Sciences

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“…FPs are histologically indistinguishable from tuberous sclerosis complex (TSC)-associated facial AFs, also known as adenoma sebaceum, which usually present as multiple lesions on the central face before puberty [1], [8]. The TSC is an autosomal dominantly inherited disorder characterized by the development of hamartomas in multiple organs, particularly the central nervous system, heart, kidneys, and skin [9].…”

Section: Introductionmentioning

confidence: 99%

Fibrous Papule of the Face, Similar to Tuberous Sclerosis Complex-Associated Angiofibroma, Shows Activation of the Mammalian Target of Rapamycin Pathway: Evidence for a Novel Therapeutic Strategy?

et al. 2014

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Fibrous papules of the face are hamartomas characterized by stellate-shaped stromal cells, multinucleated giant cells, and proliferative blood vessels in the dermis. The pathogenesis of fibrous papules remains unclear. There is a striking microscopic resemblance between fibrous papules and tuberous sclerosis complex (TSC)-associated angiofibromas. A germline mutation of the TSC1 or TSC2 gene, leading to activation of the mammalian target of rapamycin (mTOR) pathway, accounts for the pathogenesis of TSC-associated angiofibromas. Activated mTOR subsequently activates p70 ribosomal protein S6 kinase (p70S6K) and ribosomal protein S6 (S6) by phosphorylation. Rapamycin, a mTOR inhibitor, is effective in treating TSC-associated angiofibromas. The aim of this study was to understand whether the mTOR pathway is activated in fibrous papules. We studied immunoexpressions of phosphorylated (p-) mTOR effectors in fibrous papules, TSC-associated angiofibromas, and normal skin controls. P-mTOR, p-p70S6K and p-S6 were highly expressed in dermal stromal cells and epidermal keratinocytes in fibrous papules and TSC-associated angiofibromas but not in fibroblasts and epidermal keratinocytes of normal skin controls (p<0.001). The results suggest topical rapamycin may be a novel treatment option for fibrous papules.

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“…The facial angiofibroma, a so-called adenoma sebaceum, was first described by Balzer and Menetrier (6) and is highly suggestive of TSC. The lesions may not be visible at birth, but usually appear by the age of 4 years and are present in more than 50% of patients (3)(4)(5). The typical lesions are symmetric, 4 to 5 mm in diameter, and usually do not enlarge.…”

Section: Discussionmentioning

confidence: 99%