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http://dx.doi.org/10.1097/DAD.0b013e31820a1d47DOI Listing

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Background: Pilomatrixoma is an uncommon benign skin neoplasm originating from the hair follicle. Here, we report a rare case of giant and atypical proliferating pilomatrixoma affecting the eyelid.

Case Presentation: A 47-year-old male presented with a solitary, giant mass on his left upper eyelid, which had recently shown progressive enlargement.

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Pilomatrical skin tumors harbor mutations in CTNNB1, which encodes for β-catenin, a downstream effector of the Wnt signaling pathway responsible for the differentiation, proliferation, and adhesion of epithelial stem cells. Therefore, downstream molecules, such as CDX2, LEF-1, and SATB2, in the Wnt signaling pathway could be useful diagnostic markers. Here, we sought to investigate the potential of immunohistochemistry (IHC) to differentiate between pilomatricoma and pilomatrical carcinoma, as well as from other cutaneous adnexal tumors.

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Article Synopsis
  • AA amyloidosis is typically linked to inflammatory diseases, but this case highlights a connection with solid tumors, specifically pilomatricoma.
  • A 48-year-old man exhibited gastrointestinal AA amyloidosis alongside a giant, ulcerated tumor on his arm, leading to significant weight loss and diarrhea.
  • After the tumor was surgically removed, the gastrointestinal symptoms resolved, demonstrating that excising the tumor may reduce systemic amyloidosis symptoms.
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Article Synopsis
  • TRPS1, a transcription factor linked to breast and liver cancer, was analyzed for its expression in normal skin and various skin tumors.
  • In normal skin, TRPS1 was absent in the epidermis but present in other skin structures like hair follicles and sebaceous glands.
  • TRPS1 positivity varied across different cutaneous tumors, being particularly high in cases like extramammary Paget disease and metastatic breast cancer, while absent in several common skin cancers like melanoma and basal cell carcinoma.
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Pilomatrixoma is a relatively rare benign skin appendageal tumor, often presenting in the pediatric age group as a nodular lesion and most commonly involving the head and neck, making it amenable to primary fine needle aspiration (FNA) diagnosis. We report the clinical and histopathological findings of two cases of pilomatrixoma in children, both of which were initially misdiagnosed as small round blue cell tumors due to high cellularity and misinterpretation of the proliferating basaloid cells. Histopathology revealed basal cell proliferation and mitoses indicating that they were progressive, early lesions.

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