Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria) - 04/05/17

Doi : 10.1016/j.diii.2016.10.007

A. David ^a,^⁎ , M. Vincent ^b, P.P. Arrigoni ^a, S. Barbarot ^c, M.A. Pistorius ^d, B. Isidor ^b, E. Frampas ^a
^a Service central de radiologie et imagerie médicale, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France
^b Unité de génétique clinique, hôpital Mère-Enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France
^c Clinique dermatologique, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex, France
^d Médecine interne, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France

^⁎Corresponding author.

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Abstract

Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies. The identification of these features by radiologists can therefore be useful in the clinical screening of Werner syndrome.

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Keywords : Werner syndrome, Musculoskeletal system, Soft-tissue calcification, Adult progeria, X-ray