Flame-like Calcifications in Werner Syndrome

概要

Kobe University Repository : Kernel
PDF issue: 2024-05-08

Flame-like Calcifications in Werner Syndrome

Tsujimoto, Yasutaka
Bando, Hironori
(Citation)
JCEM Case Reports,1(4):luad099

(Issue Date)
2023-07

(Resource Type)
journal article

(Version)
Version of Record

(Rights)
© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine
Society.
This is an Open Access article distributed under the terms of the Creative Commons
Attribution License, which permits unrestricted reuse, distribution, and reproductio…
in
any medium, provided the original work is properly cited.
(URL)
https://hdl.handle.net/20.500.14094/0100485307

JCEM Case Reports, 2023, 1, 1–2
https://doi.org/10.1210/jcemcr/luad099
Advance access publication 24 August 2023
Image In Endocrinology

Flame-like Calcifications in Werner Syndrome
Yasutaka Tsujimoto1

Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, Kobe 650-0017, Japan

Correspondence: Hironori Bando, MD, PhD, Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, 7-5-1,
Kusunoki, Chuo, Kobe 650-0017, Japan. Email: hbando@med.kobe-u.ac.jp.
Key Words: diabetes mellitus, progeroid syndrome, foot disease

Image Legend
A 42-year-old Japanese woman was referred for diabetes
mellitus with onset at age 39. Her medical history included
nonalcoholic fatty liver disease, dyslipidemia, and primary
hypogonadism. Her height, body weight, and body mass in­
dex were 159.5 cm, 43.7 kg, and 17.1 kg/m2, respectively.
Fasting plasma glucose was 5.27 mmol/L (95 mg/dL) and se­
rum insulin was 156.42 pmol/L (21.8 μU/mL), suggesting
high insulin resistance. She had a hoarse voice, thinning
hair, and scleroderma-like skin changes, matching progeria.
She complained of heel pain and skin ulceration on her feet.
Her sister and brother had a similar medical history and
physical findings. Foot radiography showed flame-like

calcifications of the Achilles tendon (Fig. 1), which were fre­
quently shown in Werner syndrome [1]. Genetic testing re­
vealed a compound heterozygous variant of WRN gene
(c.3139-1G > C and c.3383 + 1G > T), resulting in a diagno­
sis of Werner syndrome. Werner syndrome is an autosomal
recessive disorder and progeroid syndrome. A patient with
Werner syndrome often has comorbidities such as diabetes
mellitus, foot disease, arteriosclerosis, and malignancies,
which worsen the prognosis. The hallmark of glucose in­
tolerance in patients with Werner syndrome is high insulin
resistance without obesity [2]. Werner syndrome could be
a cause of young adult–onset diabetes mellitus and its clue
of diagnosis may be at the feet.

Figure 1. White arrows show calcifications in the Achilles tendons.

Received: 20 July 2023. Editorial Decision: 24 July 2023. Corrected and Typeset: 24 August 2023
© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which
permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

Downloaded from https://academic.oup.com/jcemcr/article/1/4/luad099/7249937 by Kobe University Library user on 29 November 2023

1

and Hironori Bando1

2

JCEM Case Reports, 2023, Vol. 1, No. 4

Acknowledgments

Informed Patient Consent for Publication

We thank Koshizaka M, Maezawa Y, and Yokote K (Chiba
University) for genetic testing.

Signed informed consent obtained directly from the patient.

Funding
No public or commercial funding.

None declared.

1. Taniguchi A, Tanaka Y, Takemoto M, et al. Management guideline
for Werner syndrome 2020 8. Calcification in tendons associated
with Werner syndrome. Geriatr Gerontol Int. 2021;21(2):163-165.
2. Takemoto M, Kubota Y, Taniguchi T, et al. Management guideline
for Werner syndrome 2020. 3. Diabetes associated with Werner syn­
drome. Geriatr Gerontol Int. 2021;21(2):142-145. ...

この論文で使われている画像