title: Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.
abstract: Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, characterized by poikiloderma, small stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. Although numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, to our knowledge, only 1 study has shown evidence of delayed fracture healing in a patient with Rothmund-Thomson syndrome. We present the case of a 13-year-old female diagnosed with Rothmund-Thomson syndrome who demonstrated delayed union of her fifth metatarsal after a Jones fracture. She was treated conservatively for 6 weeks with non-weightbearing cast immobilization and was then transitioned to a controlled ankle motion walker for an additional 4 weeks. Two months later, however, she continued to experience pain, and, on radiographic examination, the fracture remained unchanged. Therefore, with her guardian's consent, the patient elected to undergo open reduction and internal fixation of the fifth metatarsal fracture. At 8 weeks postoperatively, the patient reported a subsidence of symptoms and had returned to normal activity. With our report, we hope to increase practitioner awareness that delayed bone healing could be a possibility in patients with Rothmund-Thomson syndrome and encourage consideration of routine imaging and supplementation with calcium and vitamin D. Additionally, the present findings suggest that patients with Rothmund-Thomson syndrome could benefit from early surgical intervention, given their poor bone healing capacity and high likelihood of nonunion. Although the association between impaired bone healing and Rothmund-Thomson syndrome is rational, additional studies are needed to determine the prevalence of chronic nonunion in this patient population.
authors.affiliation: Resident, Podiatric Residency Program, New York Methodist Hospital, Brooklyn, NY.
authors.forename: Kirsten L
authors.initials: KL
authors.lastname: Barisonek
authors.affiliation: Research Associate, Clinical Education and Research Department, Coordinated Health, Allentown, PA.
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Protzman
authors.affiliation: Fellow, Foot and Ankle Reconstruction Fellowship, Coordinated Health, Bethlehem, PA.
authors.forename: Garrett M
authors.initials: GM
authors.lastname: Wobst
authors.affiliation: Fellowship Director, Foot and Ankle Reconstruction, and Department Chair, Foot and Ankle Department, Coordinated Health, Bethlehem, PA. Electronic address: drsbrigido@mac.com.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Brigido
mesh_terms: D000293:Adolescent; D005260:Female; D017102:Fracture Healing; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery*; D005599:Fractures, Ununited / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery*; D006801:Humans; D008682:Metatarsal Bones / Q000000981:diagnostic imaging / Q000293:injuries* / Q000601:surgery*; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000503:physiopathology
keywords: Rothmund-Thomson syndrome; fifth metatarsal; fracture; poikiloderma