Werner syndrome: a rare cause of osteoporosis in a young female

Werner syndrome: a rare cause of osteoporosis in a young female Rheumatology 2018;0:1 Clinical vignette doi:10.1093/rheumatology/key163 Werner syndrome: a rare cause of osteoporosis in FIG.1 Patient displaying thin hair with coarse, dry skin a young female A 33-year-old female was referred with osteoporosis. She was seen as a child by paediatricians for failure to thrive. She suffered from irregular periods throughout puberty and had cataracts removed from both eyes whilst in her early 20s, at which age she also developed alopecia and grey hair. She suffered from amenorrhoea and subse- quently had a dual-energy X-ray absorptiometry scan that confirmed osteoporosis (T score 2.9 femoral neck). She was found to have a wrinkled appearance with a beak like nose. She had thin hair with coarse, dry skin (Fig. 1). She was of short stature and had a small ulcer on her right foot. A diagnosis of Werner syndrome was made: subsequent genetic testing revealed that she was homozygous for a mutation in the RECQL gene. She was treated with calcitriol. Of interest, a further patient had recently been diagnosed with Werner syndrome: a 43-year-old South Asian male was referred with leg ulcers and sclerodermatous skin changes. He displayed features consistent with premature ageing and he also had the RECQL gene. It later transpired that both patients were estranged siblings. Werner syndrome, sometimes termed adult progeria, is a rare, autosomal recessive condition in which patients 1 2 present with symptoms consistent with premature Farrouq Mahmood and Philip S. Helliwell ageing [1]. It typically manifests at puberty, where affected Department of Rheumatology, Bradford Teaching Hospitals individuals do not exhibit a growth spurt like their peers. NHS Foundation Trust, Bradford and Leeds Institute of They later develop signs such as alopecia, tight skin and a Rheumatic and Musculoskeletal Medicine, University of wrinkled appearance. Endocrine disturbances such as Leeds, Leeds, UK osteoporosis develop. No cure exists for the condition and treatment is conservative. Correspondence to: Philip S. Helliwell, Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, 2nd Floor, Chapel Allerton Hospital, Harehills Lane, Funding: No specific funding was received from any Leeds, LS7 4SA, UK. E-mail: p.helliwell@leeds.ac.uk bodies in the public, commercial or not-for-profit sectors to carry out the work described in this manuscript. Reference Disclosure statement: The authors have declared no 1 Chen L, Oshima J. Werner Syndrome. J Biomed conflicts of interest. Biotechnol 2002;2:4654. ! The Author(s) 2018. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com Downloaded from https://academic.oup.com/rheumatology/advance-article-abstract/doi/10.1093/rheumatology/key163/5033584 by Ed 'DeepDyve' Gillespie user on 08 June 2018 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Rheumatology Oxford University Press

Werner syndrome: a rare cause of osteoporosis in a young female

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Oxford University Press
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© The Author(s) 2018. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com
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1462-0324
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1462-0332
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10.1093/rheumatology/key163
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Abstract

Rheumatology 2018;0:1 Clinical vignette doi:10.1093/rheumatology/key163 Werner syndrome: a rare cause of osteoporosis in FIG.1 Patient displaying thin hair with coarse, dry skin a young female A 33-year-old female was referred with osteoporosis. She was seen as a child by paediatricians for failure to thrive. She suffered from irregular periods throughout puberty and had cataracts removed from both eyes whilst in her early 20s, at which age she also developed alopecia and grey hair. She suffered from amenorrhoea and subse- quently had a dual-energy X-ray absorptiometry scan that confirmed osteoporosis (T score 2.9 femoral neck). She was found to have a wrinkled appearance with a beak like nose. She had thin hair with coarse, dry skin (Fig. 1). She was of short stature and had a small ulcer on her right foot. A diagnosis of Werner syndrome was made: subsequent genetic testing revealed that she was homozygous for a mutation in the RECQL gene. She was treated with calcitriol. Of interest, a further patient had recently been diagnosed with Werner syndrome: a 43-year-old South Asian male was referred with leg ulcers and sclerodermatous skin changes. He displayed features consistent with premature ageing and he also had the RECQL gene. It later transpired that both patients were estranged siblings. Werner syndrome, sometimes termed adult progeria, is a rare, autosomal recessive condition in which patients 1 2 present with symptoms consistent with premature Farrouq Mahmood and Philip S. Helliwell ageing [1]. It typically manifests at puberty, where affected Department of Rheumatology, Bradford Teaching Hospitals individuals do not exhibit a growth spurt like their peers. NHS Foundation Trust, Bradford and Leeds Institute of They later develop signs such as alopecia, tight skin and a Rheumatic and Musculoskeletal Medicine, University of wrinkled appearance. Endocrine disturbances such as Leeds, Leeds, UK osteoporosis develop. No cure exists for the condition and treatment is conservative. Correspondence to: Philip S. Helliwell, Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, 2nd Floor, Chapel Allerton Hospital, Harehills Lane, Funding: No specific funding was received from any Leeds, LS7 4SA, UK. E-mail: p.helliwell@leeds.ac.uk bodies in the public, commercial or not-for-profit sectors to carry out the work described in this manuscript. Reference Disclosure statement: The authors have declared no 1 Chen L, Oshima J. Werner Syndrome. J Biomed conflicts of interest. Biotechnol 2002;2:4654. ! The Author(s) 2018. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com Downloaded from https://academic.oup.com/rheumatology/advance-article-abstract/doi/10.1093/rheumatology/key163/5033584 by Ed 'DeepDyve' Gillespie user on 08 June 2018

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RheumatologyOxford University Press

Published: Jun 5, 2018

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