Biomedical subjects
Publications and source records attributed to M T Fliegelman.
Pseudoxanthoma elasticum (PXE) is a genetic disorder of connective tissue with multi-systemic manifestations. Although the skin changes are striking, the eye and cardiovascular lesions can be most devastating to the patient. A review of the clinical and pathologic findings and recent therapeutic approaches is presented. Recent investigations on the pathogenesis and genetics of PXE are also discussed.
A case is presented of a child with the two congenital anomalies of macrodactyly and epidermal nevus. Macrodactyly was noted at birth; nevus unius lateris became apparent at three months. The chance association of these two rare anomalies as individual sporadic occurrences is exceedingly unlikely. The case is presented as a possible syndrome entity, if other case documentation exists.
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