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Isabelle Masouyé

Publications and source records attributed to Isabelle Masouyé.

6 recordsLinked to original sources

An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions.

BACKGROUND: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2. OBSERVATIONS: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back, but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors. CONCLUSION: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.

Adenocarcinoma, Sebaceous↗

Histopathologic correlation in dermoscopy: a micropunch technique.

BACKGROUND: Dermoscopy is a simple-to-use, in vivo method for the diagnosis of malignant melanoma and the differential diagnosis of pigmented skin lesions. It uses an immersion technique and optical magnification to visualize structures not visible to the naked eye. The anatomoclinical correlation of dermoscopic with histopathologic findings is important, and while many articles have described different techniques to achieve this goal, no direct correlation with a visual control has been described. We recently developed a micropunch technique that allows for the first time this direct correlation. OBSERVATIONS: After applying local anesthesia, the physician makes a superficial round incision using a 1-mm micropunch in the area of interest and leaves the punch in place. The lesion is documented using digital dermoscopy before and after surgery. Using these images, the laboratory technicians can easily visualize the precise site of the punch and its correlation with the initial dermoscopic image, and the sections are chosen in a way that they pass through the punch incision. The punch incision can be easily identified in the histopathologic slides because of its clear-cut borders. Since the punch always stays in place, this technique does not interfere with the interpretation of the slides (eg, measurement of the Breslow thickness). CONCLUSIONS: The advantages of our technique are that it is easy to perform by any clinician in any setting after a short setup and training period for the clinician and the laboratory technicians. Unlike with other techniques, the physician need not be present at the laboratory at the moment of the step sectioning. It can be performed in private practice and for many other indications besides pigmented skin lesions. Finally, since this technique allows for the first time a direct correlation between dermoscopic and histopathologic findings, the clinician will be able to "guide" the pathologist and indicate the precise areas of interest or suspicion.

Biopsy↗

[Quiz case].

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Humans↗

Hyaluronate accumulation and decreased CD44 expression in perifollicular solitary cutaneous myxoma.

BACKGROUND: Myxomas are rare cutaneous tumors which may be solitary or associated with Carney's complex, NAME or LAMB syndromes. The mucinous material which constitutes the stroma of cutaneous myxomas is predominantly composed of hyaluronate (HA), the major component of the extracellular matrix. CD44 is a polymorphic integral membrane glycoprotein which serves as the principal cell surface receptor for HA. OBJECTIVE AND METHODS: Here we present 2 cases of solitary cutaneous myxomas displaying microscopically a perifollicular localization, in which we explored the nature of the accumulated mucinous material by colloidal iron and HA-binding protein stainings, as well as the epidermal expression of CD44 protein by immunohistochemistry. RESULTS: We show that HA is accumulated in the stroma of the cutaneous myxoma lesions and that the protein expression of CD44 in the keratinocytes of the trichofolliculoma-like epithelial buds projecting from the hair follicle centering these lesions is significantly decreased. CONCLUSIONS: Our results suggest that a decrease in CD44 expression in follicular epithelial proliferations may be correlated with an abnormal HA accumulation in cutaneous myxoma.

Adult↗