Phenytoin dependent fibrosis in polyfibromatosis syndrome*

Abstract

We have followed up the evolution of a polyfibromatosis syndrome in a 20-year-old male treated with diphenylhydantoin for epileptic convulsions. The main symptoms were attributable to fibrosis of the adventitial dermis associated with camptodactyly, knuckle pads, tendinous calcification, osseous hypoplasia of the face, scoliosis with thoracic deformation, and osteolytic changes of wrists, hands and feet. Quantitative variations of the mechanical properties of skin measured in vivo suggested a reversible fibrosing action of diphenylhydantoïn in a genetically predisposed patient.

Erosive Arthropathy with Osteolysis As a Typical Feature in Polyfibromatosis Syndrome: A Case Report and a Review of the Literature

“…Polyfibromatosis syndrome accompanied with erosive polyarthropathy is a rare dermatoarthropathy (1, 4, 5, 8) after the first historical description for polyfibromatosis syndrome by Tourain et al (3) in 1945. It seems that the presence of arthropathy in a patient with phenytoin-related polyfibromatosis was first described by Pierard et al (1) in 1979, although Black et al (4) used the term 'erosive arthropathy' in their description.…”

“…Polyfibromatosis syndrome accompanied with erosive polyarthropathy is a rare dermatoarthropathy (1, 4, 5, 8) after the first historical description for polyfibromatosis syndrome by Tourain et al (3) in 1945. It seems that the presence of arthropathy in a patient with phenytoin-related polyfibromatosis was first described by Pierard et al (1) in 1979, although Black et al (4) used the term 'erosive arthropathy' in their description. Pierard et al first described a 20-yr-old Caucasian male with polyfibromatosis and erosive arthropathy associated with phenytoin-dependent fibrosis, who presented with diverse skeletal abnormalities including camptodactyly, facial bone hypoplasia, scoliosis, and osteolytic changes of the wrists, hands, and feet joints (1).…”

“…Polyfibromatosis syndrome is a rare disease with unknown etiology, and is characterized by cutaneous keloid formation, fibromatoses of diverse sites including palmar, plantar, penile, and knuckle areas, and erosive changes of the hand and foot joints (1, 2). In 1945, Tourain et al (3) first described hereditary polyfibromatosis as a rare syndrome that mainly presented with various connective tissue changes.…”

“…In 1945, Tourain et al (3) first described hereditary polyfibromatosis as a rare syndrome that mainly presented with various connective tissue changes. Pierard et al (1) identified osteolysis of joints in a patient with phenytoin-related polyfibromatosis. Histopathological findings of erosive arthropathy were first reported in a patient with an aggressive form of polyfibromatosis syndrome (4).…”

“…Clinical and radiological characteristics for erosive arthropathy in polyfibromatosis have rarely been described, although comments about the presence of arthropathy in some cases have been presented in the literature (1, 4, 5, 8). Here, we described the radiological and clinical features for erosive arthropathy in our case and reviewed erosive arthropathy for cases with polyfibromatosis syndrome in previous reports.…”