Immunosuppression and sebaceous tumors: A confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy

Landis, Megan N.; Davis, Carrie L.; Bellus, Gary A.; Wolverton, Stephen E.

doi:10.1016/j.jaad.2010.08.003

Cited by 28 publications

(23 citation statements)

References 31 publications

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“…5 This rare genodermatosis can be hardly unmasked after a transplant and the relative immunosuppressive therapies, thus resulting in many diagnostic problems. [2][3] A previous report showed the case of a transplant patient with sebaceous neoplasms (after cyclosporine and tacrolimus treatments), who received the diagnosis of unmasked MTS, presenting only an aberration in mismatch repair genes and a lack of internal malignancies. This evidence highlights the high probability of unmasked MTS in transplant recipients under immunosuppressive treatments.…”

Section: Discussionmentioning

confidence: 99%

“…Regardless, this rare genodermatosis can be hardly unmasked after a transplant, resulting in many diagnostic problems for pathologists as well as the clinicians. [2][3] In recent times, evidence of resolution of multiple cutaneous neoplasms in transplant patients under treatment with everolimus, has marked an important stage in the role of proliferation signal inhibitors in this class of patients. 3 We report the case of a transplant patient with multiple sebaceous neoplasms, who successfully regressed after switching the therapy with everolimus.…”

Section: Introductionmentioning

confidence: 99%

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Donati

Paolino

Muscardin

et al. 2017

Exp Clin Transplant

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Nonmelanoma skin cancers are the most common malignancies in transplant recipients under immunosuppression; nevertheless, appendage tumors also may appear. The onset of several cutaneous neoplasms in transplant patients can cause deterioration in quality of life of these patients.A 62-year-old white woman patient developed several malignant and benign sebaceous neoplasms during an immunosuppressive treatment for a renal transplant. The genetic study showed a mutation in MSH6-eson 1 (c116G>A), without mutations in MLH1 gene and MSH2. A final diagnosis of multiple sebaceous tumors in an immunosuppressed patient without Muir-Torre syndrome was made. The spreading of further cutaneous neoplasms led to a change in immunosuppression: namely, that clinicians suspended tacrolimus and add everolimus. After 2 months, all tumor lesions on the face and on the limbs have disappeared, and no further lesions occurred.Everolimus could represent a valid therapeutical treatment for transplant patients at high risk for cutaneous tumors. A genetic consult and a consequent study of the genetic profile should be performed on each of these patients, to avoid risks of recurrent cutaneous tumors and negative effects on the quality of life.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Untitled

Donati

Paolino

Muscardin

et al. 2017

Exp Clin Transplant

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“…It is associated with an inherited defect in one copy of a DNA mismatch repair genes MLH1, MSH2 (mutS homolog2), MSH6 or PMS2 (postmeiotic segregation) 2. It is considered to be a phenotypic variation of HNPCC, synonym: Lynch syndrome and is the association of sebaceous gland tumours or keratoacanthomas with one or more visceral cancers 2 3…”

Section: Discussionmentioning

confidence: 99%

Diagnostic error: what Muir-Torre syndrome has taught us

et al. 2015

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A low-grade sebaceous carcinoma was excised from a 55-year-old woman's neck. At follow-up, 11 months later, a recent diagnosis of mucinous adenocarcinoma of the colon and history of clear cell endometrial carcinoma were identified. A strong family history of bowel cancer suggested Muir-Torre syndrome. Unexpectedly, hereditary non-polyposis colorectal cancer had previously been genetically confirmed; the results were found loosely filed in the paper chart. The patient had not informed us about her diagnosis; having discussed the case with other physicians she felt the diagnosis would be common knowledge. In 1999, US National Institute of Medicine estimated that preventable medical error resulted in the deaths of 44–98 000 people yearly in US hospitals. Four categories of medical error, including diagnosis, treatment, preventive and ‘other’ were described, while the reasoning processes that result in these errors are outlined by Reasonet al. We utilise this rare case to illustrate these important concepts.

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“…Other skin findings of Gardner syndrome are fibromas, lipomas, leiomyomas, pilomatricomas, neurofibromas, and pigmented skin lesions (Table 1). Sebaceous gland neoplasms are uncommon cutaneous tumors in the general population, but they are the most characteristic dermatologic markers of Muir-Torre syndrome (MTS), a subtype of hereditary nonpolyposis colorectal cancer syndrome [21]. MTS is identified by at least one sebaceous skin tumor or keratoacanthoma and one or more visceral malignancies, with an increased propensity for colorectal and genitourinary cancers [22].…”

Section: Hamartoma-related Syndromesmentioning

confidence: 99%

More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies

et al. 2012

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Genetic syndromes with dermatologic findings and multisystemic involvement (e.g., visceral cancer predisposition) are underrecognized. Patients may have incomplete penetrance and variable expressivity; some patients may solely exhibit subtle skin signs, which create a diagnostic challenge for physicians. Interdisciplinary diagnostic knowledge is required for the early diagnosis and monitoring of patients with these syndromes. Cutaneous changes in the face-one of the most highly exposed areas-can be easily noticed by patients themselves, their families and friends, and physicians; these changes may serve as early indicators of genetic syndromes with malignancies. In this article, we present examples of genetic syndromes with malignancies for which a thorough faciocutaneous examination is helpful in establishing a diagnosis. These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (Bloom syndrome, Rothmund-Thomson syndrome), and hamartoma-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, Gardner syndrome, Muir-Torre syndrome). The characteristics of these faciocutaneous clues are summarized and discussed. Objective evaluation of these faciocutaneous clues in combination with other clinical information (e.g., family history, histopathological findings, combination with other concomitant faciocutaneous lesions) is emphasized to narrow the diagnosis. The list of genetic syndromes with faciocutaneous manifestations is still expanding. Increased awareness of faciocutaneous markers can alert physicians to underlying syndromes and malignancies, render earlier screening and detection of associated medical issues, and allow for genetic counseling of family members. The Oncologist 2012;17:930 -936

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Immunosuppression and sebaceous tumors: A confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy

Cited by 28 publications

References 31 publications

Untitled

Untitled

Diagnostic error: what Muir-Torre syndrome has taught us

More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies

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