PDF(Pubmed)
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.
摘要：
厚皮骨膜骨病是一种罕见的遗传性疾病，称为原发性或特发性肥厚性骨关节病（HOA）/Touraine-Solente-Gole综合征。它是一种常染色体显性或隐性疾病，包括数字棍棒，骨膜增生,多汗症,和厚皮症（面部皮肤增厚）。眼部表现并不常见；然而，可能出现上睑下垂。由于疾病进展，该病例表现为严重的双侧下垂。进行了20毫米的上眼睑切除术，并进行了提上肌前移，以提高他的视力。这是牙买加首例报告的厚皮骨膜病（PDP）病例。我们介绍了一例罕见的厚皮骨膜增生伴重度上睑下垂的病例，通过手术干预取得了良好的效果。
