Familial cutaneous cylindromas: Investigations in five generations of a family

Gerretsen, Anton L.; Beemer, Frits A.; Deenstra, Wilco; Hennekam, F. A. M.; Vloten, W. A. van

doi:10.1016/0190-9622(95)90234-1

Cited by 62 publications

(52 citation statements)

References 59 publications

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“…Numerous reports of coexistence of both types of tumors in the same family and even in the same individual were published (27). There are too many well-documented kindreds in which subjects were affected with both types of tumors to suggest the possibility of a chance association of two separate autosomal mutations in each case (1,13,28,29). Moreover, syringomas that show differentiation toward sweat ducts may coexist with TEs (30).…”

Section: Discussionmentioning

confidence: 99%

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Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Salhi

Bornholdt²,

Oeffner³

et al. 2004

Cancer Research

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The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, whereas CYLD remained as a candidate. Mutation analysis identified a single bp germ-line deletion expected to result in truncation or absence of the encoded protein, which segregated with the multiple TE phenotype. In individual tumors, loss of heterozygosity at 16q or a somatic point mutation in the CYLD gene was detected. Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21.

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Section: Discussionmentioning

confidence: 99%

“…Because some families with CYLD mutations were affected with both cylindromas and TEs (11,12), CYLD deficiency appears to be associated with Spiegler-Brooke syndrome (MIM 605041). In fact, familial cylindromatosis may represent one end of a clinical spectrum of a group of adnexal neoplasms of the skin (13).…”

Section: Introductionmentioning

confidence: 99%

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Salhi

Bornholdt²,

Oeffner³

et al. 2004

Cancer Research

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“…(2) Because they are relatively common, these tumors invite one to exploit them as models for dissecting the molecular controls that drive epithelial precursor cell commitment to a defined differentiation lineage in human skin. Furthermore, they have clinical importance.…”

Section: Introductionmentioning

confidence: 99%

Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control

Massoumi

Paus

2007

BioEssays

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Analysing cylindromatosis and the associated defects in the CYLD gene is providing novel insights into the molecular principles of epithelial growth control and carcinogenesis in, and beyond, the skin. In this review, we summarize the histopathology and histogenesis of cylindromas, and the available genetic information on patients with these skin appendage tumors. Focusing on recent data concerning the normal functions and signaling interactions of the CYLD gene product, we explain how CYLD interferes with TNF-alpha or TLR-mediated signaling as well as with JNK or NF-kappaB-dependent p65/50 signaling to limit inflammation. In addition, we delineate how CYLD interferes with activation of the proto-oncogene Bcl(3) and with cyclin D1 expression to limit tumorigenesis, and chart how tumor growth-promoting agents or UV light and inflammatory mediators can activate CYLD. We argue that these recent insights into CYLD function and cylindroma pathogenesis may lead to the development of novel molecular strategies for cancer prevention and treatment.

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“…Solitary cylindromas typically occur on scalp with no positive familial history [5]. Multiple cylindromas are associated with BSS with positive family history [13]. Malignant transformation of cylindroma is very rare and even more so with the solitary type than with the multiple variant [4,9,11].…”

Section: Discussionmentioning

confidence: 99%

Malignant Cylindroma of the Scalp Arising in a Setting of Multiple Cylindromatosis: A Case Report

Glavin

Bhattacharyya

2009

Head and Neck Pathol

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An unusual case of malignant cylindroma of the scalp arising in a 79-year-old white female with multiple cylindromatosis is presented. The tumor apparently arose from a cylindroma and had features of spiradenoma. Multiple cylindromatosis is an uncommon hereditary autosomal dominant disease, which is characterized by multiple skin adnexal tumors like cylindromas and trichoepitheliomas and occasional spiradenomas. Cylindroma is an uncommon benign tumor, which originates from skin appendages and is most commonly found on the scalp and face with a strong predilection for middle-aged and elderly females. Although cylindromas are usually benign neoplasms, carcinoma arising in such neoplasms is rare with only sporadic reports in literature. Her family history was negative for a similar disease. The patient's main concern was painful lesions over her right ear that interfered with wearing of her glasses. The clinical, histological immunohistochemical features, and treatment are presented along with a review of the literature.

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Familial cutaneous cylindromas: Investigations in five generations of a family

Cited by 62 publications

References 59 publications

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control

Malignant Cylindroma of the Scalp Arising in a Setting of Multiple Cylindromatosis: A Case Report

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