BG10 A case of pachydermoperiostosis (primary hypertrophic osteoarthropathy)

Abstract

Abstract We report a case of a 21-year-old man who was referred from the community with concern about persistent swollen and inflamed eyelids together with possible facial acne. He was known to have hypertrophic osteoarthropathy under the care of rheumatology for which he was on regular infliximab infusions. He had previously been treated with methotrexate (intolerant) azathioprine and adalimumab (lack of efficacy). He also had a long-standing history of inflammatory bowel disease and associated complications: iron-deficiency anaemia, previous choledochal cyst and biliary stricture, as well as previous deficiencies in vitamins B12, A and E. The patient was known to the genetics team, with prior genetic testing demonstrating that he is homozygous for a pathogenic SLC02A1 variant (c.1264_1265delAC). This gene encodes a prostaglandin transporter involved in mediating the uptake and clearance of prostaglandins in numerous tissues. On examination, he was found to have pronounced thickening of the facial skin, especially the forehead, alongside deep furrowing of the scalp. The eyelids were severely swollen and inflamed, with prominent straight eyelashes. There were milia present on the face predominantly on the brow and cheeks. There was clubbing of all digits on his hands and feet. The cutaneous findings were deemed all in keeping with pachydermoperiostosis. Pachydermoperiostosis, also known as primary/idiopathic hypertrophic osteoarthropathy, Touraine–Solente–Gole syndrome and Rosenfeld–Kloepfer syndrome, was first described by Friedrich in 1868. This is a rare condition, and both autosomal dominant and autosomal recessive modes of inheritance have been noted. The condition usually presents during puberty and the hallmark features are thickening and coarsening of the facial skin, periostosis and digital clubbing. Other cutaneous features can include seborrhoea with sebaceous hyperplasia, acne, hyperhidrosis and cutis verticis gyrata. Ocular manifestations include blepharoptosis, floppy eyelid syndrome, and hypertrophy of both the eyelids and palpebral conjunctiva. Crohn disease and multiple bone and joint issues are known features of the condition (Doshi D. Touraine–Solente–Gole syndrome. Orbit 2018; 37:97–101; Tabatabaei SA, Masoomi A, Soleimani M et al. Pachydermoperiostosis: a clinicopathological description. J Curr Ophthalmol 2019; 31:450–3). This reported case demonstrates both classic cutaneous and other organ system features of this rare genetic condition. It highlights the importance of being able to recognize all the associated findings when a patient presents with thickening of their facial skin and eyelids.