RESUMEN
Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.
RESUMEN
We describe a 10-year-old girl with paraspinal alveolar rhabdomyosarcoma (RMS) who presented with an asymptomatic soft tissue mass on the left aspect of the parietal scalp of 2 weeks' duration. Biopsy demonstrated metastasis of her RMS. A full-body positron emission tomography (PET) scan revealed multiple areas of increased uptake consistent with extensive metastases. We also discuss the literature on RMS classification and metastasis to the skin.
