Form fruste pachydermoperiostosis associated with ptosis and floppy eyelid syndrome
Pachydermoperiostosis (PDP), also known as idiopathic or primary hypertrophic osteoarthropathy or Touraine-Solente-Gole Syndrome, is a rare genetic disorder affecting skin and bone, consisting of pachydermia and periostosis. Pachydermia is a thickening and furrowing of the skin and face in a manner that resembles the skin of a pachyderm. Periostosis is periosteal new bone formation in the long bones. In this report, a 16-year-old boy presented with bilateral ptosis and floppy eyelids. He was successfully treated with bilateral upper eyelid pentagonal wedge resections. Histopathology of the excised tissue demonstrated mild epidermal acanthosis and marked increased dermal collagen with thickening of individual fibers, consistent with pachydermia, as well as papillary conjunctival inflammation and Meibomian glands hyperplasia with ductal dilatation, consistent with floppy eyelid syndrome. Radiographic imaging did not demonstrate any signs of periostosis, confirming the diagnosis of form fruste PDP. In a diligent search of the peer-reviewed medical literature (using PubMed and cross-referenced literature), this case may be the first report of floppy eyelid syndrome and ptosis associated with form fruste PDP.
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