A syndrome of trichoepitheliomas, milia, and cylindromas

Rasmussen, J. E.

doi:10.1001/archderm.111.5.610

Cited by 27 publications

(17 citation statements)

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“…[8][9][10] A further link between the 2 conditions is a common genetic alteration identified in a subset of patients with MFT and BSS, namely, mutations in the CYLD gene, a tumor suppressor gene, located on chromosome 16q12-q13. [11][12][13][14][15][16] There are more than 20 germline CYLD mutations reported in MFT.…”

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confidence: 99%

Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients

Kazakov

Vaněček²,

Zelger³

et al. 2011

The American Journal of Dermatopathology

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Multiple familial trichoepitheliomas (MFT) constitute an autosomally inherited syndrome possibly related to Brooke-Spiegler syndrome (BSS). Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phenotype identified mutations in the CYLD gene on chromosome 16q12-q13, a gene responsible for BSS. A systematic investigation of PTCH and CYLD mutations in patients with MFT has never been performed. Our main objective was to collect a reasonably large series of patients with MFT to (1) study the clinicopathological spectrum of the disease, (2) determine whether the PTCH gene is implicated in the pathogenesis of MFT, and if so (3) determine the relative frequency of CYLD and PTCH mutations, (4) establish if there may be any possible genotype-phenotype correlations, and (5) study the spectrum of somatic mutations. Clinical analysis including family histories, histopathological investigations, and molecular genetic studies were performed. There were 9 female and 7 male patients ranging in age from 11 to 63 years. They presented with multiple, small, discrete and sometimes confluent, skin-colored to pink, asymptomatic nodules preferentially located on the face, being especially prominent and confluent in the nasolabial folds and inner aspects of the eyebrows. A total of 66 conventional trichoepitheliomas (TEs) were studied microscopically. Aside from typical features of TE, some also exhibited variant morphological patterns including areas reminiscent of other benign adnexal neoplasms and melanocytic hyperplasia. In none of the 9 patients tested was a germline mutation of the PTCH gene identified. Germline CYLD mutations were detected in 6 of 13 patients tested (identical in 2 unrelated patients) including 2 novel mutations, whereas the remaining 7 individuals showed wild-type alleles. Two patients with germline wild-type CYLD showed, however, a somatic mutation in the gene (1 duplication, 1 substitution mutation). Neither CYLD nor PTCH germline mutations were found in the 5 patients in whom both genes were analyzed. MFT seems to be a phenotypic variant of BSS. The PTCH gene is rarely, if ever, involved in the pathogenesis of MFT. Absence of a germline mutation of the CYLD gene in cases harboring a somatic mutation may be explained by large deletions in the gene or by mutation in intronic sequences or in the promoter region. Considering our 5 patients with no mutation in either gene, the final possibility is that another, as yet undescribed gene (neither CYLD nor PTCH) is implicated in the pathogenesis of some patients with MFT.

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confidence: 99%

Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients

Kazakov

Vaněček²,

Zelger³

et al. 2011

The American Journal of Dermatopathology

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“…Other conditions associated with multiple TEs, i.e. Brook-Spieglar syndrome [11, 14], Rasmussen’s syndrome [15](multiple hereditary TEs and cylindromas/spiradenomas with or without milia) and Rombo syndrome [16](TEs, vermiculate atrophoderma, hypotrichosis etc.) have also been associated with BCCs [15, 16, 17, 18].…”

Section: Discussionmentioning

confidence: 99%

“…Brook-Spieglar syndrome [11, 14], Rasmussen’s syndrome [15](multiple hereditary TEs and cylindromas/spiradenomas with or without milia) and Rombo syndrome [16](TEs, vermiculate atrophoderma, hypotrichosis etc.) have also been associated with BCCs [15, 16, 17, 18]. Furthermore, a patient with multiple follicular hamartomas has been reported to show a late development of BCC [19].…”

Section: Discussionmentioning

confidence: 99%

Basal Cell Carcinoma in Association with Multiple Trichoepitheliomas

Misago

Narisawa²

2001

Dermatology

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We report the case of a basal cell carcinoma (BCC) associated with multiple trichoepitheliomas (TEs) and include the results of histopathological and immunohistochemical studies. The patient had a large, pigmented nodule associated with 4 flesh-colored papules in the central facial area. Two of the 4 flesh-colored papules and the large pigmented nodule were excised. Histopathologically, the pigmented nodule was diagnosed as BCC and 2 of the papular lesions were diagnosed as TEs. In both the BCC and TEs, almost all of the basaloid aggregations were diffusely positive for cytokeratin (CK) 19, CK8 and CK8/18. Based on these clinicopathological observations and reports in the recent literature, these two neoplasms are considered to be highly related. BCC appears to differentiate toward follicular germinative cells, and TE is its benign counterpart.

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“…77,78 A small subset (Rasmussen syndrome) develop milia. 79,80 Orofaciodigital syndrome type 1 (PapillonLeague-Psaume, OMIM 311200)…”

Section: Brooke-spiegler Syndrome (Omim 605041)mentioning

confidence: 99%