Multiple trichoepitheliomas in a mother and daughter

Crotty, Kerry A.; Dutta, B.; Hogan, P

doi:10.1046/j.1440-0960.2003.00007.x

Cited by 8 publications

(5 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The 13 families without CYLD mutations suggest possible genetic heterogeneity, as does previous mapping of a familial trichoepithelioma locus to chromosome 9p21 (Harada et al, 1996). However, the clinical and histologic differential diagnosis of multiple inherited facial papules and nodules is complex and misdiagnosis is a possibility (Crotty et al, 2003). …”

Section: Cyld Mutationsmentioning

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: Cyld Mutationsmentioning

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

“…It occurs predominantly on the face, particularly around the nasolabial folds, nose, forehead and eyelids, occasionally involves scalp, neck and upper trunk. 3 Lesions are usually 2 -5 mm in diameter and may increase in size and number over years. Dilated telangiectatic blood vessels may be seen over the surface of large lesions.…”

Section: Discussionmentioning

confidence: 99%

Multiple familial trichoepitheliomas: a case report

Irri

Sathyanarayanan

2021

Int J Res Dermatol

View full text Add to dashboard Cite

<p class="abstract">Trichoepithelioma is a rare benign adnexal tumor that differentiates towards the folliculo-sebaceous-apocrine unit (trichoblast). It may present as solitary non-familial lesion or multiple lesions as a part of autosomal dominant inherited syndrome known as multiple familial Trichoepithelioma. Multiple familial trichoepithelioma is a relatively rare, disfiguring, benign adnexal neoplasm diagnosed by centrofacial distribution of papules and nodules, positive family history, related histopathological findings and can rarely undergo malignant transformation. Treatment is mainly for cosmetic concern. Here we report a case who presented with multiple skin coloured facial papules and nodules, with a history of similar lesions in other family members. Dermoscopy and histopathology confirmed the diagnosis of trichoepitheliomas.</p>

show abstract

“…Trichoepithelioma are diagnosed by the characteristic histopathologic findings. In familial presentations, when parent and child have similar lesions, diagnosis in the child has been made following a biopsy taken from the parent only (4). The gene for MFT has not been identified but has been mapped to a locus on chromosome 9p21 (5).…”

Section: Discussionmentioning

confidence: 99%