The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study

Toit, J. P. Du; Schneider, Johann; Visser, Willem I.; Jordaan, H.F.

doi:10.1111/ijd.12855

Cited by 8 publications

(5 citation statements)

References 35 publications

(71 reference statements)

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“…4 Most TEs are sporadic and solitary tumors in younger patients; however, less commonly, they can be a manifestation of Brooke-Spiegler syndrome, associated with germline mutations in the tumor suppressor gene CYLD. 44,45 Histologically, TB is a large, circumscribed dermal tumor without epidermal connection, composed of small basaloid cells arrayed in numerous large nodules or micronodules (Figure 3, A). [46][47][48] Similarly, TE is a well-circumscribed dermal tumor consisting of nests and strands of basaloid cells in a racemiform configuration.…”

Section: Benign Hair-germ Tumors (Trichoepithelioma Andmentioning

confidence: 99%

Histologic Mimics of Basal Cell Carcinoma

Stanoszek

Wang

Harms

2017

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Basal cell carcinoma (BCC) is the most common human malignant neoplasm and is a frequently encountered diagnosis in dermatopathology. Although BCC may be locally destructive, it rarely metastasizes. Many diagnostic entities display morphologic and immunophenotypic overlap with BCC, including nonneoplastic processes, such as follicular induction over dermatofibroma; benign follicular tumors, such as trichoblastoma, trichoepithelioma, or basaloid follicular hamartoma; and malignant tumors, such as sebaceous carcinoma or Merkel cell carcinoma. Thus, misdiagnosis has significant potential to result in overtreatment or undertreatment. Objective.— To review key features distinguishing BCC from histologic mimics, including current evidence regarding immunohistochemical markers useful for that distinction. Data Sources.— Review of pertinent literature on BCC immunohistochemistry and differential diagnosis. Conclusions.— In most cases, BCC can be reliably diagnosed by histopathologic features. Immunohistochemistry may provide useful ancillary data in certain cases. Awareness of potential mimics is critical to avoid misdiagnosis and resulting inappropriate management.

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Section: Benign Hair-germ Tumors (Trichoepithelioma Andmentioning

confidence: 99%

Histologic Mimics of Basal Cell Carcinoma

Stanoszek

Wang

Harms

2017

Archives of Pathology &Amp; Laboratory Medicine

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“…In fact, CYLD is involved in the regulation of biological processes such as cell proliferation and inflammation, and loss of the deubiquitinating activity of CYLD protein has been correlated with tumorigenesis (Liang et al 2005;Nagy et al 2015). Therefore, the awareness of the potential development of carcinoma in patients carrying CYLD mutations is important (du Toit et al 2016;Kallam et al 2016). Consequently, guidance on photoprotection was provided to all study participants.…”

Section: Discussionmentioning

confidence: 99%

A large family with CYLD cutaneous syndrome: medical genetics at the community level

et al. 2019

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Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.

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“…They are considered small if less than 2 centimeters in diameter or giant if greater than 2 centimeters. Reports of giant solitary trichoepitheliomas comment that they are usually pedunculated, up to several centimeters in diameter, and found on the head, perianal region, and thighs of adults [1]. They arise in adults in the 7th decade and must be differentiated from basal cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…Most of the reported cases in the literature discussed patients of Fitzpatrick skin type IV-VI with lesions involving the face. du Toit et al reported a South African patient with a linear trichoepithelioma on the nasal dorsum and Chang reported an African-American female with unilateral configuration of trichoepitheliomas on the left nasolabial fold and left cheek following the lines of Blaschko [1,5]. Geffner et al reported a 10 year old African American female who presented with extensive linear grouped papules on the left shoulder, left anterior and posterior trunk, and left lower extremity that were found to be trichoepitheliomas [6].…”

Section: Discussionmentioning

confidence: 99%

Linear trichoepithelioma on the neck of a 15-year-old girl

Laska

Belli²,

Kobayashi³

2016

Dermatology Online Journal

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Trichoepitheliomas are trichogenic tumors that can have various clinical morphologies. These tumors are benign and differentiate toward the outer root sheath of the hair follicle. Solitary trichoepitheliomas arise sporadically, in contrast to multiple trichoepitheliomas, which are usually inherited as an autosomal dominant trait or as part of various genetic syndromes. We report a case of an adolescent female with a linear array of trichoepitheliomas on her left neck.

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The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study

Cited by 8 publications

References 35 publications

Histologic Mimics of Basal Cell Carcinoma

Histologic Mimics of Basal Cell Carcinoma

A large family with CYLD cutaneous syndrome: medical genetics at the community level

Linear trichoepithelioma on the neck of a 15-year-old girl

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