Muir-Torre syndrome: a case of unusual coexisting genetic mutations

被引：2

作者：

Cino, D. ^{[1
,2
]}

Drumm, C. ^{[2
]}

Sheahan, K. ^{[3
]}

D'Arcy, C. ^{[3
]}

Nolan, N. ^{[3
]}

Hoti, E. ^{[4
]}

Winter, D. ^{[5
]}

O'Duffy, F. ^{[6
]}

Dolan, R. ^{[7
]}

Moriarty, B. ^{[2
]}

机构：

[1] Univ Coll Dublin, Sch Med, Dublin, Ireland

[2] St Vincents Univ Hosp, Dept Dermatol, Dublin, Ireland

[3] St Vincents Univ Hosp, Dept Pathol, Dublin, Ireland

[4] St Vincents Univ Hosp, Dept Hepatobiliary & Liver Transplant Surg, Dublin, Ireland

[5] St Vincents Univ Hosp, Ctr Colorectal Dis, Dublin, Ireland

[6] St Vincents Univ Hosp, Dept Otolaryngol & Head & Neck Surg, Dublin, Ireland

[7] St Vincents Univ Hosp, Dept Plast & Reconstruct Surg, Dublin, Ireland

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2022年 / 47卷 / 03期

关键词：

D O I：

10.1111/ced.15008

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

引用

页码：602 / 604

页数：3

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