Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood.
View Article and Find Full Text PDFSolid organ and hematopoietic stem cell transplantation may be complicated by the development of post-transplant lymphoproliferative disorders (PTLDs). The World Health Organization categorizes PTLDs into four entities including non-destructive, monomorphic, polymorphic, and classical Hodgkin lymphoma types. The most common PTLDs are B-cell lymphomas, with T-cell lymphomas accounting for only a few cases.
View Article and Find Full Text PDFBackground: Spitzoid neoplasms in pediatric patients pose an interesting challenge for clinicians. More data on the clinical, histologic, and molecular characteristics of these lesions are necessary to distinguish features that may portend recurrence or malignant behavior to help determine future treatment guidelines in pediatric patients.
Methods: Institutional Review Board approval was obtained from Children's Hospital of Wisconsin to conduct a retrospective analysis of spitzoid neoplasms.
Primary cutaneous follicle center cell lymphoma is the most prevalent type of primary cutaneous B-cell lymphoma and usually portends a favorable prognosis. Typically, the diagnosis can be rendered based on characteristic histopathologic features and immunohistochemical profile. Rarely, a diagnostically challenging variant with a predominant spindle morphology mimicking other malignant spindle cell neoplasms may be encountered.
View Article and Find Full Text PDFFacial nerve dysfunction can be functionally and cosmetically debilitating and is commonly associated with high anxiety for patients. We report 3 cases of temporary, unilateral facial nerve palsy following dermatologic surgery under local anaesthesia over the preauricular cheek and mandibular angle, which, to our knowledge, has not been reported in the literature. Given its frightening presentation mimicking a stroke, it is essential for dermatologists to become aware of this complication to inform their patients more thoroughly.
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