Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in thePSTPIP1gene
Clinical and Experimental Dermatology2015Vol. 40(4), pp. 367–372
Citations Over TimeTop 10% of 2015 papers
Abstract
We describe a novel mutation in PSTPIP1 resulting in pyoderma gangrenosum, acne and ulcerative colitis. This novel constellation of clinical manifestations, which we term 'PAC syndrome', suggests the need to regroup all PSTPIP1-associated phenotypes under one aetiological group.
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