Form fruste pachydermoperiostosis associated with ptosis and floppy eyelid syndrome

Authors

  • Avi Rubinov University of Calgary, division of surgery, department of ophthalmology
  • Bevin Bart Department of Anesthesia, Rocky view general hospital, Calgary, Alberta, Canada.
  • Allan Oryschak Department of Pathology, Rocky view general hospital, Calgary, Alberta, Canada
  • Ezekiel Weis Division of Ophthalmology, Department of Surgery, Faculty of Medicine, University of Calgary, Alberta, Canada.
  • Andrew Ting Division of Ophthalmology, Rocky view general hospital, Calgary, Alberta, Canada

DOI:

https://doi.org/10.16964/er.v5i1.74

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.

Downloads

Published

2019-04-01

Issue

Vol. 5 No. 1 (2019)

Section

Articles

License

Eye Reports has chosen to apply the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0) to all manuscripts to be published.

An Open Access Publication is one that meets the following two conditions:

1. The author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.
2. A complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.

Authors who publish with this journal agree to the following terms: 1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal. 2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal. 3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.