BG10 A case of pachydermoperiostosis (primary hypertrophic osteoarthropathy)

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