Treatment of Multiple Familial Trichoepitheliomas With a Combination of Aspirin and a Neutralizing Antibody to Tumor Necrosis Factor α: A Case Report and Hypothesis of Mechanism

Fisher, Galen H.; Geronemus, Roy G.

doi:10.1001/archderm.142.6.782

Cited by 19 publications

(17 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Present knowledge of the pathways that regulate CYLD is scant and identification of positive and negative regulators of CYLD could be of intense value, since they could be potentially novel anti-inflammatory or anti-neoplastic agents. Further investigations of the efficacy of salicylates (NK-kB antagonists) (Oosterkamp et al 2006) as well as other existing anti-inflammatory therapies such as the TNF-alpha antagonists (Fisher and Geronemus, 2006;) in the treatment of adnexal tumors are warranted.…”

Section: Future Directionsmentioning

confidence: 99%

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.

View full text Add to dashboard Cite

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.

show abstract

Section: Future Directionsmentioning

confidence: 99%

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.

View full text Add to dashboard Cite

show abstract

“…Based on this finding, the authors suggested that topical application of aspirin derivatives may be useful in restoring growth control of FC. Fisher and Geronemus 8 later reported successful treatment of a woman with MFT by aspirin 325 mg twice a day and adalimumab (a human recombinant IgG1 anti‐TNF monoclonal antibody) 40 mg 1–2 times weekly. The patient had extensive facial lesions that had undergone multiple laser resurfacing procedures.…”

Section: Reportmentioning

confidence: 99%

“…Various superficial destructive techniques are available, but the results are often unsatisfactory. Recently, Fisher and Geronemus 8 reported a case of MFT successfully treated with aspirin and adalimumab, a tumour necrosis factor (TNF)‐α inhibitor. In this report, we describe the detection of a novel splicing mutation of CYLD in a Taiwanese family with MFT.…”

mentioning

confidence: 99%

A novel splicing mutation of theCYLDgene in a Taiwanese family with multiple familial trichoepithelioma

Huang

Chao

Lee

2009

Clinical and Experimental Dermatology

View full text Add to dashboard Cite

Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin-coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour-suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor nuclear factor-kappaB, and loss of CYLD contributes to oncogenesis. We report a novel splicing mutation (IVS12 + 1 G-->A) in the CYLD gene in a Taiwanese pedigree with MFT, and discuss new developments in treatment options.

show abstract

“…Topical application of imiquimod cream has been used as a non‐surgical intervention with success in a single case report . The tumor necrosis factor inhibitor, adalimumab, has been reported in the treatment of MFT with a moderate response . The treatment of choice for solitary TE is surgical excision with a narrow margin compared to a 3–5 mm peripheral margin for BCC …”

Section: Discussionmentioning

confidence: 99%

“…15 The tumor necrosis factor inhibitor, adalimumab, has been reported in the treatment of MFT with a moderate response. 35 The treatment of choice for solitary TE is surgical excision with a narrow margin compared to a 3-5 mm peripheral margin for BCC. 20,36 The current study was confined to a cohort of patients, in the Western Cape Province of South Africa, where ethnic and geographic origins were not available.…”

Section: Discussionmentioning

confidence: 99%

The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study

et al. 2015

View full text Add to dashboard Cite

show abstract

Treatment of Multiple Familial Trichoepitheliomas With a Combination of Aspirin and a Neutralizing Antibody to Tumor Necrosis Factor α: A Case Report and Hypothesis of Mechanism

Cited by 19 publications

References 6 publications

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

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

A novel splicing mutation of theCYLDgene in a Taiwanese family with multiple familial trichoepithelioma

The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study

Contact Info

Product

Resources

About