The PI3K/AKT/mTOR signaling pathway is a critical mediator of cell functions. Activating mutations of this pathway are known to disturb normal growth and development, leading to a range of overgrowth and neurologic syndromes. We report a case of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) in novel association with MTOR pathogenic variant c.
View Article and Find Full Text PDFPostsurgical pyoderma gangrenosum (PSPG) is a rare but serious surgical complication with a predilection for the breast and abdomen. Immunosuppression is the mainstay of treatment of PSPG. In addition, it has become a common practice for clinicians to prophylactically treat patients with a history of PSPG with corticosteroids or immunomodulators during subsequent operative procedures to prevent recurrence.
View Article and Find Full Text PDFCase Rep Dermatol Med
February 2018
Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults.
View Article and Find Full Text PDFDelusional infestation (DI), also known as delusional parasitosis, consists of a patient's strong belief that he or she is infested with a nonliving substance or living organism despite lack of medical evidence to support this belief. The most commonly reported sources of infestation include insects, fibrous strands, worms, and scabies. DI is predominantly seen in women and older patients.
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