Form fruste pachydermoperiostosis associated with ptosis and floppy eyelid syndrome

Avi Rubinov, Bevin Bart, Allan Oryschak, Ezekiel Weis, Andrew Ting

Abstract


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.


References


Girisha KM, Mandal K, Phadke SR. Milder form of pachydermoperiostosis: a report of four cases. Clin Dysmorphol 2009; 18(2): 85–9.

Khanna V, Vaishya R. Pachydermoperiostitis: a case report. Apollo Med 2016; 13(1): 67–8.

Supradeeptha C, Shandilya SM, Vikram Reddy K, Satyaprasad J. Pachydermoperiostosis: a case report of complete form an literature review. J Clin Orthop Trauma 2014; 5(1): 27-32.

Reginato AJ, Schiapachasse V, Guerrero R. Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children. Skeletal Radiol 1982; 8(2): 105–9.

Vogl A, Goldfischer S. Pachydermoperiostosis: primary or idiopathic hypertrophic osteoarthropathy. Am J Med Elsevier 1962; 33(2): 166–87.

Borochowitz Z, Rimoin DL. Pachydermoperiostosis. Birth Defects Encyclopaedia 1990; 1349-1350.

Downes RN, Mininni F, Collin JRO, et al. Floppy eyelid syndrome in pachydermoperiostosis. Orbit 1989; 8(2): 93–9.

Culbertson WW, Ostler HB. The floppy eyelid syndrome. Am J Ophthalmol 1981; 92(4): 568–75.

Friedhofer H, Salles AG, Gemperli R, Ferreira MC. Correction of eyelid anomalies in pachydermoperiostosis. Ophthal Plast Reconstr Surg 1999; 15(2): 137–8.

Kirkpatrick JN, McKee PH, Spalton DJ. Ptosis caused by pachydermoperiostosis. Br J Ophthalmol 1991; 75(7): 442–6.

Berdia J, Tsai FF, Liang J, Shinder R. Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome. Orbit 2013; 32(4): 266–9.

Bleyen I, White VA, Dolman PJ. Floppy eyelid syndrome and ptosis in a patient with pachydermoperiostosis. Ophthalmic Plast Reconstr Surg 2010; 26(4): 293–5.

Ezra DG, Beaconsfield M, Sira M, et al. The associations of floppy eyelid syndrome: a case control study. Ophthalmology 2010; 117(4): 831–8.

Boulton JE, Sullivan TJ. Floppy eyelid syndrome and mental retardation. Ophthalmology 2000; 107(11): 1989–91.




DOI: http://dx.doi.org/10.16964/er.v5i1.74

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