55 research outputs found

    Laugier-Hunziker Syndrome: An Uncommon Cause of Oral Pigmentation and a Review of the Literature

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    Laugier-Hunziker syndrome is a rare benign condition characterized by diffuse oral hyperpigmentation associated with pigmentation of the nails. The syndrome must be included in the differential diagnosis of diffuse oral pigmentation to exclude other conditions with systemic implications. We describe a 43-year-old white woman with the clinical and histological features of Laugier-Hunziker syndrome associated with toenail pigmentation. The correct clinical identification avoids the need for detailed investigations and treatment. We also review the potential causes of oral pigmentation

    Neoplastic Leg Ulcers

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    Skin biopsy is an important procedure for a correct diagnosis of varying skin conditions, from inflammatory to neoplastic diseases. Nevertheless, some authors still consider this procedure a high risk in patients affected by leg ulcers (LUs) and prefer reserving it for selected cases

    The Histopathologic Evaluation of Diagnostic Procedures in Nail Melanoma

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    Introduction: The diagnostic delay in nail melanoma (NM) has been repeatedly emphasized. It may be related to both clinical misinterpretations and to errors in the bioptic procedure. Objectives: To assess the efficacy of histopathologic examination in different diagnostic biopsies in NM. Methods: We retrospectively investigated the diagnostic procedures and histopathologic specimens referred to the Laboratory of Dermatopathology for the clinical suspicion of NM from 2006 to January 2016. Results: Eighty-six nail histopathologic specimens were analysed consisting in 60 longitudinal, 23 punch and 3 tangential biopsies. A diagnosis of NM was performed in 20 cases, benign melanocytic activation in 51 cases and melanocytic nevi in 15 patients. Longitudinal and tangential biopsy were diagnostic in all cases, regardless of the clinical suspicion. Nail matrix punch biopsy instead was not diagnostic in most of the cases (13/23 specimens). Conclusions:  In the presence of an NM clinical suspicion, longitudinal biopsy is recommended (lateral or median) because it provides exhaustive information on the characteristics of melanocytes’ morphology and distribution in all the components of the nail unit. Tangential biopsy, recently encouraged by expert authors due to the optimal surgical outcome, in our experience gives incomplete information on tumor extension. Punch matrix biopsy gives limited evidence in the diagnosis of NM

    Unraveling the role of microRNA/isomiR network in multiple primary melanoma pathogenesis.

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    Malignant cutaneous melanoma (CM) is a potentially lethal form of skin cancer whose worldwide incidence has been constantly increasing over the past decades. During their lifetime, about 8% of CM patients will develop multiple primary melanomas (MPMs), usually at a young age and within 3 years from the first tumor/diagnosis. With the aim of improving our knowledge on MPM biology and pathogenesis, we explored the miRNome of 24 single and multiple primary melanomas, including multiple tumors from the same patient, using a small RNA-sequencing approach. From a supervised analysis, 22 miRNAs were differentially expressed in MPM compared to single CM, including key miRNAs involved in epithelial-mesenchymal transition. The first and second melanoma from the same patient presented a different miRNA profile. Ten miRNAs, including miR-25-3p, 149-5p, 92b-3p, 211-5p, 125a-5p, 125b-5p, 205-5p, 200b-3p, 21-5p, and 146a-5p, were further validated in 47 single and multiple melanoma samples. Pathway enrichment analysis of miRNA target genes revealed a more differentiated and less invasive status of MPMs compared to CMs. Bioinformatic analyses at the miRNA isoform (isomiR) level detected a panel of highly expressed isomiRs belonging to miRNA families implicated in human tumorigenesis, including miR-200, miR-30, and miR-10 family. Moreover, we identified hsa-miR-125a-5p|0|-2 isoform as tenfold over-represented in melanoma than the canonical form and differentially expressed in MPMs arising in the same patient. Target prediction analysis revealed that the miRNA shortening could change the pattern of target gene regulation, specifically in genes implicated in cell adhesion and neuronal differentiation. Overall, we provided a putative and comprehensive characterization of the miRNA/isomiR regulatory network of MPMs, highlighting mechanisms of tumor development and molecular features differentiating this subtype from single melanomas
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