Muir–Torre syndrome: a case report and screening recommendations

Pancholi, Alok; Collins, Donald C.; Lindley, R; Gandhi, Pranav

doi:10.1308/147870808x360387

Cited by 7 publications

(2 citation statements)

References 3 publications

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“…Consistent with the case described, a variable temporal relationship has been shown to exist between cutaneous sebaceous growths and visceral malignancies in MTS [15, 22, 23]. This, coupled with the nonspecific nature of the sebaceous neoplasms demonstrated by the case, can present a diagnostic challenge for clinicians.…”

Section: Discussionsupporting

confidence: 73%

Generational Expression of Muir-Torre Syndrome in a Canadian Family

Vanderbeck

Sibbald

Murugan

2016

Case Reports in Dermatological Medicine

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Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life. She has a confirmed extensive family history of MTS with both male and female family members harbouring either HMLH1 or HSMH2 mutations. Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS. MTS presents a diagnostic challenge for clinicians. The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families. The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations.

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Section: Discussionsupporting

confidence: 73%

Generational Expression of Muir-Torre Syndrome in a Canadian Family

Vanderbeck

Sibbald

Murugan

2016

Case Reports in Dermatological Medicine

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“…It is characterized by the development of sebaceous skin tumors and various internal malignancies, with colon cancer being the most prevalent. In this syndrome, sebaceous characteristics can even be discerned within a keratoacanthoma [ 5 ]. Multiple self-healing squamous epithelioma (MSSE) of Ferguson–Smith are rare, autosomal, dominantly inherited diseases with recurrent, histologically malignant tumors that undergo spontaneous regression.…”

Section: Introductionmentioning

confidence: 99%

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review

Karampinis,

Kostopoulou,

Toli

et al. 2024

Medicina

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Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir–Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions’ undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson–Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented.

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Hereditary Endometrial and Ovarian Cancers

Yadav

Singla

2019

Preventive Oncology for the Gynecologist

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Muir–Torre syndrome: a case report and screening recommendations

Cited by 7 publications

References 3 publications

Generational Expression of Muir-Torre Syndrome in a Canadian Family

Generational Expression of Muir-Torre Syndrome in a Canadian Family

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review

Hereditary Endometrial and Ovarian Cancers

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