Linear and dermatomal trichoepitheliomas

Geffner, Rami E.; Goslen, J. Blake; Cruz, Daniel J. Santa

doi:10.1016/s0190-9622(86)70114-x

Cited by 36 publications

(21 citation statements)

References 14 publications

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“…Although classically bilateral and symmetrically distributed, facial papules may coalesce into larger plaques 40,41 or show a dermatomal or linear distribution. 42 One patient in our series manifested only unilateral lesions lateralized to one half of the face. Coalescence of periorbital lesions may lead to visual impairment, which was the main complaint in one of our patients.…”

Section: Discussionmentioning

confidence: 71%

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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Section: Discussionmentioning

confidence: 71%

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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“…11,39 Conversely, some cases reported as trichoepitheliomas are in our opinion examples of basaloid follicular hamartomas. 40,41 Finally, some patients with myasthenia gravis seem to have multiple trichoepitheliomas and basaloid follicular hamartomas, 23 supporting the notion that multiple follicular neoplasms and hamartomas may be cutaneous markers of a more complex familial syndrome. Table 1 summarizes the literature review and our interpretation of the reported cases of basaloid follicular hamartoma, multiple trichoepitheliomas associated with alopecia and myasthenia gravis, and infundibulocystic basal carcinoma.…”

Section: Commentmentioning

confidence: 87%

Multiple Hereditary Infundibulocystic Basal Cell Carcinomas

Requena¹,

Fariña²,

Robledo³

et al. 1999

Arch Dermatol

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“…The differential diagnosis included linear basaloid follicular hamartoma, linear epidermal nevus, unilateral nevoid basal cell carcinoma, and linear presentations of adnexal tumors such as eccrine nevus, eccrine spiradenoma, eccrine poroma, and linear syringoma. 1,16,18,19 The histologic differential diagnosis for this case included tumors with basaloid proliferation and follicular differentiation such as trichoepithelioma, trichoblastoma, basal cell nevus, basal cell carcinoma, fibroepithelioma of Pinkus, and hamartoma of the nevus sebaceous complex. 20,21 Our case demonstrated BFH with trichoepithelioma-like proliferations as well as trichoblastomatous nodules.…”

Section: Discussionmentioning

confidence: 99%