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Multi-Digit Auto-Amputation In Setting Of Mixed Connective Tissue Disease, Kishan P. Patel, Jennifer L. Medlin, Michelene Hearth-Holmes

Graduate Medical Education Research Journal

Raynaud’s disease is a cutaneous manifestation often present in various connective tissue and vascular diseases. Depending on the age of onset and acuity of symptoms, the phenomenon can provide clinicians with some insight as to the severity of underlying disease, including the distinction between primary and secondary Raynaud’s. However, this diagnostic approach seems to have its limitations regarding efficacy and timing of treatment. Traditionally, treatment of Raynaud’s has focused on reestablishing blood perfusion to affected tissue, which has previously been achieved with vasodilatory medications and site-specific surgical intervention. In lieu of the severe sequelae of Raynaud’s in the setting of …

New Onset Murmur Or Hamman’S Sign: Mid-Systolic Click In A Suspected Case Of Connective Tissue Disorder, Amanda Dave, Jodi Cantrell

Graduate Medical Education Research Journal

We present the case of a 15 y/o previously healthy male who presented to CHMC from an OSH with a 3 day history of shortness of breath, audible clicking noise, and chest discomfort after playing at the batting cages 4 days prior. No history of trauma. He was transferred to CHMC for further evaluation after identification of a pneumothorax on chest CT performed at OSH.

With respect to family history, the patient is one of 8 children. Of note, per discussion with family, his older siblings are all tall and have some connective tissue anomalies. Two siblings were noted to …