Chronic tibial nonunion in a Rothmund-Thomson syndrome patient

Aaron M. Carlson, Kristen B. Thomas, Salman Kirmani, Noralane Morey Lindor

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by biallelic mutations in RECQL4, a helicase involved with chromosomal instability and DNA repair. Patients typically present with a poikilodermatous facial rash, photosensitivity, congenital bony abnormalities, short stature, and have a predilection for osteosarcoma and cutaneous malignancies. We present a 34-year-old male RTS patient, previously diagnosed with osteosarcoma of the right forearm which was successfully treated with resection and chemotherapy, who has had multiple tibial fractures and has suffered from chronic nonunion of the proximal tibias bilaterally for greater than 9 years. The patient subsequently developed generalized lower extremity osteopenia with normal calcium homeostasis and calcitriol levels. As the RTS population continues to reach greater ages we must be mindful of other health concerns that may develop. Bone health is one considerable concern with a large portion of patients having congenital bony abnormalities and many receiving chemotherapy for osteosarcoma. We conclude that screening for bone health and supplementation with calcium and vitamin D may be warranted in RTS patients with a history of fractures and osteosarcoma treatment.

Original languageEnglish (US)
Pages (from-to)2250-2253
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number9
DOIs
StatePublished - Sep 2012

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Rothmund-Thomson Syndrome
Osteosarcoma
Health
Calcium
Bone and Bones
Drug Therapy
Chromosomal Instability
Tibial Fractures
Calcitriol
Metabolic Bone Diseases
Exanthema
Tibia
Forearm
Vitamin D
DNA Repair
Lower Extremity
Homeostasis
Skin
Mutation
Population

Keywords

  • Bone demineralization
  • DNA repair-deficiency disorders
  • Fractures
  • Pathological
  • Rothmund-Thomson syndrome
  • Ununited

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. / Carlson, Aaron M.; Thomas, Kristen B.; Kirmani, Salman; Lindor, Noralane Morey.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 9, 09.2012, p. 2250-2253.

Research output: Contribution to journalArticle

Carlson, Aaron M. ; Thomas, Kristen B. ; Kirmani, Salman ; Lindor, Noralane Morey. / Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 9. pp. 2250-2253.
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