Management guideline for Werner syndrome 2020 8. Calcification in tendons associated with Werner syndrome

Taniguchi, Akira; Tanaka, Yasuhito; Takemoto, Minoru; Kubota, Yoshitaka; Taniguchi, Toshibumi; Motegi, Sei‐ichiro; Nakagami, Hironori; Maezawa, Yoshiro; Koshizaka, Masaya; Kato, Hisaya; Tsukamoto, Kazuhisa; Mori, Seijiro; Kuzuya, Masafumi; Yokote, Koutaro

doi:10.1111/ggi.14084

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…Foot radiography showed flame-like calcifications of the Achilles tendon ( Fig. 1 ), which were frequently shown in Werner syndrome [ 1 ]. Genetic testing revealed a compound heterozygous variant of WRN gene (c.3139-1G > C and c.3383 + 1G > T), resulting in a diagnosis of Werner syndrome.…”

Section: Image Legendmentioning

confidence: 99%

Flame-like Calcifications in Werner Syndrome

Tsujimoto,

Bando

2023

JCEM Case Reports

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Section: Image Legendmentioning

confidence: 99%

Flame-like Calcifications in Werner Syndrome

Tsujimoto,

Bando

2023

JCEM Case Reports

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“…If multiple corn/callus and calcification of the Achilles tendon are observed, genetic testing should be conducted to confirm the diagnosis. Please refer to the "Management guideline for Werner syndrome 2020" series for the main strategy to treat each specific symptom [52][53][54][55][56][57][58][59] .…”

Section: Clinical Characteristics Of Wsmentioning

confidence: 99%

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Kato

Maezawa

2022

JAT

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Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the representative genetic progeroid syndromes and have been widely studied in the field of aging research. HGPS is a pediatric disease in which premature aging symptoms appear in early childhood, and death occurs at an average age of 14.5 years, mainly due to cardiovascular disease (CVD). Conversely, WS patients exhibit accelerated aging phenotypes after puberty and die in their 50s due to CVD and malignant tumors. Both diseases are models of human aging, leading to a better understanding of the aging-associated development of CVD. In this review, we discuss the pathogenesis and treatment of atherosclerotic diseases presented by both progeroid syndromes with the latest findings. Hutchinson-Gilford Progeria SyndromeHGPS is an ultra-rare autosomal dominant genetic premature aging syndrome that occurs in one in four to eight million births and causes death at an average age of 14.5 years due to myocardial infarction or stroke 4, 5) (Table 1). Because of the abnormal splicing of the LMNA gene on chromosome 1, the lamin A protein encoded by this gene cannot be normally produced, and an abnormal protein called progerin accumulates in the nucleus. The main symptoms are scleroderma-like skin, joint contractures, bone abnormalities, hair loss, growth retardation, and atherosclerotic diseases, such as myocardial infarction and stroke. Clinical Characteristics of HGPSInfants with HGPS are normal at birth, but the mean weight is slightly small for gestational age 4) . The first pathognomonic signs are prominent veins on the nose bridge, followed by growth retardation, hair loss, and reduced subcutaneous fat around 6 to 12 months, and the diagnosis is often made between 2 and 3 years Copyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

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“…In addition, calcification of the skin and soft tissues is associated with severe pain and skin ulceration, which is often challenging to treat and, therefore, impairs patients' quality of life [ 8 ]. It is noteworthy that calcification of the skin and soft tissues is a characteristic feature of WS: [ 1 , 2 , 9 – 12 ] because it is often painful enough to lead to a physician's visit [ 9 – 13 ]. Moreover, calcification is used as an indicator for an early diagnosis of WS in less clear cases of age-related diseases [ 13 ] because calcification in WS presents on x-rays with characteristic flame-like shadows are pathognomonic findings and differ from the calcification patterns in other disorders [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Calcification in Werner syndrome associated with lymphatic vessels aging

Ogata

Akita

Ikehara

et al. 2021

Aging

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In addition to the symptoms of aging, the main symptoms in Werner syndrome (WS), a hereditary premature aging disease, include calcification of subcutaneous tissue with solid pain and refractory skin ulcers. However, the mechanism of calcification in WS remains unclear. In this study, the histological analysis of the skin around the ulcer with calcification revealed an accumulation of calcium phosphate in the lymphatic vessels. Moreover, the morphological comparison with the lymphatic vessels in PAD patients with chronic skin ulcers demonstrated the ongoing lymphatic remodeling in WS patients because of the narrow luminal cross-sectional area (LA) of the lymphatic vessels but the increment of lymphatic microvessels density (MLVD). Additionally, fluorescence immunohistochemical analysis presented the cytoplasmic distribution and the accumulation of WRN proteins in endothelial cells on remodeling lymphatic vessels. In summary, these results point out a relationship between calcification in lymphatic vessels and the remodeling of lymphatic vessels and suggest the significance of the accumulation of WRN mutant proteins as an age-related change in WS patients. Thus, cytoplasmic accumulation of WRN protein can be an indicator of the decreasing drainage function of the lymphatic vessels and the increased risk of skin ulcers and calcification in the lymphatic vessels.

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Management guideline for Werner syndrome 2020 8. Calcification in tendons associated with Werner syndrome

Cited by 5 publications

References 11 publications

Flame-like Calcifications in Werner Syndrome

Flame-like Calcifications in Werner Syndrome

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Calcification in Werner syndrome associated with lymphatic vessels aging

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