The British journal of dermatologyHumansMaleOsteoarthropathyPrimary HypertrophicOrganic Anion Transporters
P19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
Cristina Grechin, Alan D Irvine, Natasha Jordan, Bairbre Wynne
Published: 202510.1093/bjd/ljaf465.027
Abstract
We present a rare case of PHOAR2-enteropathy syndrome with a causal variant in the SLCO2A1 gene in an adolescent male who presented to the dermatology department for prominent deep creases on his forehead and fingers. He was described progressive enl…
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