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Pan Afr Med J ; 45: 88, 2023.
Article in English | MEDLINE | ID: mdl-37663630

ABSTRACT

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.


Subject(s)
Blepharoptosis , Osteoarthropathy, Primary Hypertrophic , Humans , Osteoarthropathy, Primary Hypertrophic/diagnosis , Blepharoptosis/etiology , Comorbidity , Face , Eye , Rare Diseases
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