A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids

Abstract

Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Patients present with mechanical ptosis resulting from markedly thickened eye lids. Floppy eye lids have rarely been reported in association with PDP. We describe a rare case of PDP associated with ptosis and floppy eye lids in an adult male. Meibomian gland dysfunction was documented by meibography. The patient underwent bilateral upper lid wedge resection, lateral tarsal strip, tarsectomy and external levator advancement with good cosmetic outcome following surgery.

Complete pachydermoperiostosis: A case report

“…This mechanical dysfunction results in thickened and hypertrophic eyelids, mistakenly seen as ptosis. Previous literature has reported the finding of floppy eye syndrome in a PDP case [17] but our patient did not display significant eyelid laxity to fulfil the criteria of floppy eyelid syndrome.…”

Complete pachydermoperiostosis with diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature

“…The case presented had both blepharoptosis (figure 2) and severe visual impairment. Other ocular symptoms that have been previously reported include floppy eyelid syndrome, corneal leukoma, presenile 23,24 cataract, and macular dystrophy. All though the underlying cause of the visual impairment could not be ascertained in the index case, severe visual impairment with severely diminished visual acuity has been previously documented in patients with 25 pachydermoperiostosis and as such may be an extracutaneous manifestation of the disease.…”

A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations

“…Secondary hypertrophic osteoarthropathy is related to underlying cardiopulmonary disorders and malignancies and occurs predominantly in men of 30-70 years of age. 4 , 5 Clinically Pachydermoperiostosis are of three types: the complete includes peri-ostosis and pachyderma, incomplete includes only periostosis but no pachydermia and for me fruste has pachyderma but with mild or no periosteal involvement. 6 Our case belongs to complete type of PDP.…”

“…Prostaglandin degradation mainly depend upon 15-PGDH and when it gets defective or absent, it results in excessive levels of prostaglandins, particularly PGE2 which contribute to the pathogenesis of PDP. 4 The prostaglandin transporter gene (SLCO2A1) mutations have been documented with pachydermoperiostosis. Mutations in SLCO2A1 deactivate PGE2 transport and leads to deregulation of PGE2.…”