Basal Cell Carcinoma Occurring in Multiple Familial Trichoepithelioma: Detection of Loss of Heterozygosity in Chromosome 9q

Harada, Hiroshi; Hashimoto, Ken; Toi, Yôichiro; Yotsumoto, Shinichi; Ko, Minoru S.H.

doi:10.1001/archderm.1997.03890410130027

Cited by 22 publications

(19 citation statements)

References 6 publications

(1 reference statement)

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“…Both may have decreased male penetrance and expressivity, and, as a result, be more common in women 12–14 . Neither appears to have an ethnic or racial predilection 12–14 . Cylindromatosis has a high rate of penetrance, which is estimated to be between 60% and 75%, and approaching 100% in one study 4 …”

Section: Discussionmentioning

confidence: 97%

“…TPM and cylindromatosis are both uncommon disorders with an autosomal dominant pattern of inheritance. Both may have decreased male penetrance and expressivity, and, as a result, be more common in women 12–14 . Neither appears to have an ethnic or racial predilection 12–14 .…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by trichoepithelioma papulosum multiplex (TPM), cylindromas and, occasionally, spiradenomas. Within a given family with TPM, some members may have cylindromas, whereas others may have trichoepitheliomas or a combination of both 8–12 . We describe the case of a 30‐year‐old man with multiple trichoepitheliomas and multiple cylindromas.…”

Section: Introductionmentioning

confidence: 99%

“…Within a given family with TPM, some members may have cylindromas, whereas others may have trichoepitheliomas or a combination of both. [8][9][10][11][12] We describe the case of a 30-year-old man with multiple trichoepitheliomas and multiple cylindromas. TPM was first reported separately by Brooke 13 and Fordyce 14 in 1892; Spiegler 15 is credited with reviewing extensive case material of cylindromatosis in 1899 more than 50 years after its original description by Ancell.…”

Section: Introductionmentioning

confidence: 99%

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Brooke–Spiegler syndrome

Jc¹,

Wa̧sik²,

Szybejko-Machaj³

et al. 2001

Acad Dermatol Venereol

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The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Brooke–Spiegler syndrome

Jc¹,

Wa̧sik²,

Szybejko-Machaj³

et al. 2001

Acad Dermatol Venereol

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“…Patients with multiple familial trichoepitheliomas (MFTs) have been reported to develop basal cell carcinomas in areas of their skin that are affected by the trichoepitheliomatous neoplasia. [7][8][9][10][11][12] Although it is tempting to speculate, it has not been rigorously investigated whether patients with MFT are more predisposed to developing basal cell carcinomas than the general population.…”

Section: Galen H Fisher MD Joan Mones Do Melissa Gill Md Julidementioning

confidence: 99%

Mohs Surgical Extirpation of a Basal Cell Carcinoma in a Patient with Familial Multiple Trichoepitheliomas

Fisher

Mones

Gill

et al. 2005

Dermatologic Surgery

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BACKGROUND. The success of Mohs surgery relies on the ability to histologically differentiate tumor from the normal background tissue of the patient. In most cases of basal cell carcinoma and nonmelanoma skin cancer, this is a relatively straightforward process. However, in distinction, when only subtle histopathologic features differentiate the background tissue from the tumor of interest, the determination of a tumor-free margin becomes more challenging.

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Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

Blake

Toro

2009

Hum. Mutat.

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Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. We review the clinical features, molecular genetics, and the animal models of BSS. To date, a total of 51 CYLD mutations have been reported, occurring in exons 9–20, in 73 families with diverse ethnic and racial backgrounds. Of 51 mutations, 86% are expected to lead to truncated proteins. The seven missense mutations reported to date occur only within the ubiquitin-specific protease (USP) domain of the CYLD protein and most are associated exclusively with multiple familial trichoepithelioma. CYLD functions as a tumor suppressor gene. CYLD encodes a deubiquitinating (DUB) enzyme that negatively regulates the NF-kappaB and c-Jun N-terminal kinase pathways. CYLD DUB activity is highly specific for lysine 63 (K63)-linked ubiquitin (Ub) chains but has been shown to act on K48-linked Ub chains as well. In 2008 the CYLD USP domain was crystallized, revealing that the truncated Fingers subdomain confers CYLD’s unique specificity for K63-linked ubiquitin chains. Recent work using animal models revealed new roles for CYLD in immunity, lipid metabolism, spermatogenesis, osteoclastogenesis, anti-microbial defense and inflammation.

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Basal Cell Carcinoma Occurring in Multiple Familial Trichoepithelioma: Detection of Loss of Heterozygosity in Chromosome 9q

Cited by 22 publications

References 6 publications

Brooke–Spiegler syndrome

Brooke–Spiegler syndrome

Mohs Surgical Extirpation of a Basal Cell Carcinoma in a Patient with Familial Multiple Trichoepitheliomas

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

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