Primary Limbal Deficiency in a Patient With Aggressive Polyfibromatosis Syndrome

Abstract

Purpose:: To identify the pathophysiology and the clinical course of a rare case of bilateral limbal deficiency in a patient with aggressive polyfibromatosis syndrome.

Methods:: Bilateral progressive conjunctivalization in a 44-year-old male with multiple keloids has been diagnosed as primary limbal deficiency with aggressive polyfibromatosis syndrome. Surgical reconstruction with limbal and amniotic membrane transplantation was performed in both eyes. Combined medical treatments with immunological modulation, including D-penicillamine, intralesional and medium-dose oral steroids, colchicine, intravenous cyclophosphamide, has also been tried in rheumatology clinic.

Results:: Even with two consecutive surgical reconstruction with limbal and amniotic membrane transplantation, severe conjunctival fibrosis has recurred in both eyes. Biopsies of the limbal lesions showed changes consistent with keloid formation in skin lesions. Though we have tried various treatments over the past year, none have been effective on either his ocular, cutaneous or articular manifestations. In addition to ocular surface fibrosis, this patient also had palmar and plantar fibromatosis, and an erosive arthropathy.

Conclusions:: Our case offers another disorder where ocular and rheumatological manifestations occur together. Long-term prognosis of this disease is thought to be very poor even with recent medical and surgical treatment. Thus, we should be aware of the considerable overlap between the two specialties and increase collaborations to elucidate an etiologic link and hopefully an effective treatment.

Keywords: cornea: clinical science • conjunctiva • immunomodulation/immunoregulation