Sclerodermalike syndromes: Great imitators

Varjú, Cecília; Kumánovics, Gabór; Czirják, László; Matucci‐Cerinic, Marco; Minier, Tünde

doi:10.1016/j.clindermatol.2019.10.010

Cited by 16 publications

(34 citation statements)

References 177 publications

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“…WS is considered a scleroderma-like syndrome since the first description by Otto Werner in 1904 16 25 26. According to our case and the literature, low incidence can be due to underestimation of cases related to the lack of awareness of this pathology 11.…”

Section: Discussionmentioning

confidence: 57%

Adult progeria: a new mutation in the WRN gene

et al. 2022

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Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive inherited progeroid syndrome characterised by multiple features consistent with accelerated ageing. This disease is associated with several rheumatic conditions such as early osteoarthritis and osteoporosis, sarcopenia, soft-tissue calcifications, gout, limb ulcers and scleroderma-like skin features. WS should be included in the differential diagnosis of systemic sclerosis. The diagnosis is clinical, and in 90% of cases, a genetic test reveals a pathogenic variant of the WRN gene.WRN encodes a member of the RecQ family of DNA helicases and has a role in DNA repair. 86 different pathological WRN mutations have been identified so far. Here we present a case report of a typical WS patient associated with a newly described genetic variant of the WRN gene.

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Section: Discussionmentioning

confidence: 57%

Adult progeria: a new mutation in the WRN gene

et al. 2022

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“…Connective tissue disorders with reduced fascia mobility include inherited conditions that cause increased connective tissue thickness, such as acromelic dysplasias (caused by mutations in genes that encode secreted extracellular matrix proteins and proteins involved in TGF-β signaling), progerias and other premature aging syndromes like Werner’s, which features increased collagen I and III production [ 47 ]. Non-inherited disorders featuring reduced connective tissue mobility include scleroderma and scleroderma-like syndromes such as chronic graft-versus-host-disease (GVHD), hypothyroidism, renal failure, and diabetes [ 48 ]. Among these conditions, scleroderma and GVHD have been the most studied for musculoskeletal pain.…”

Section: Does Generalized Hypo- or Hypermobility Predispose One To Or Protect From Myofascial Pain?mentioning

confidence: 99%

Fascia Mobility, Proprioception, and Myofascial Pain

Langevin

2021

Life

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The network of fasciae is an important part of the musculoskeletal system that is often overlooked. Fascia mobility, especially along shear planes separating muscles, is critical for musculoskeletal function and may play an important, but little studied, role in proprioception. Fasciae, especially the deep epimysium and aponeuroses, have recently been recognized as highly innervated with small diameter fibers that can transmit nociceptive signals, especially in the presence of inflammation. Patients with connective tissue hyper- and hypo-mobility disorders suffer in large number from musculoskeletal pain, and many have abnormal proprioception. The relationships among fascia mobility, proprioception, and myofascial pain are largely unstudied, but a better understanding of these areas could result in improved care for many patients with musculoskeletal pain.

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“…Contrasted to SSc, NSF spares the face and may involve the skin over the spine. 3 In addition to potentially severe impairment from restrictive mobility of large and small joint contractures, NSF causes significant pain and discomfort. This results from pressure, destruction, and distortion of periarticular, cutaneous, and subcutaneous neural networks resulting in long-term disability.…”

Section: Introductionmentioning

confidence: 99%

“…The recent criteria for SSc weigh Raynaud’s, nailfold capillary abnormalities, digital ulcerations and pitting, telangiectasias, and specific antibodies of which each are likely to be absent in NSF. 3 Skin presentation and biopsy can help distinguish between NSF, SSc, eosinophilic fasciitis, and scleromyxedema. Unlike SSc, NSF skin thickening occurs weeks after contrast exposure and is characterized by a brawny texture, progressing from lower extremities superiorly typically with erythema.…”

Section: Introductionmentioning

confidence: 99%

Nephrogenic systemic fibrosis–related pulmonary restriction: An under-appreciated manifestation potentially reversible with imatinib therapy

Mansour

Coleman²,

Mendoza

et al. 2022

Journal of Scleroderma and Related Disorders

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Nephrogenic systemic fibrosis typically occurs in patients with renal failure and is strongly associated with gadolinium exposure through stimulation of macrophage-activated fibrosis. Patients present with prominent fibrosis of the skin and internal organs. Quality of life is significantly diminished due to impairment from restrictive mobility of large and small joint contractures, pain, and ensuing psychological stress. Nephrogenic systemic fibrosis can be severe and life-threatening. Nephrogenic systemic fibrosis patients reliant on hemodialysis with cutaneous symptoms, defined as hyperpigmentation, hardening, and tethering of skin on the extremities, experience rates of mortality as high as 48%. Physician awareness and preventive strategies coincided with a reduction in the incidence of nephrogenic systemic fibrosis. Several treatments, of which physical therapy may be a key adjuvant, have been used to treat nephrogenic systemic fibrosis, with variable and inconsistent results, lacking wide consensus. Improvement of renal function may improve nephrogenic systemic fibrosis, with some patients demonstrating stabilization or improvement after renal transplantation or resolution of acute renal failure. Imatinib, a tyrosine kinase inhibitor, demonstrates antifibrotic effects in the skin and recently was used to successfully treat nephrogenic systemic fibrosis. We report a case of severe nephrogenic systemic fibrosis with extensive skin fibrosis causing extrapulmonary restriction who demonstrated improved lung function following treatment with imatinib.

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Sclerodermalike syndromes: Great imitators

Cited by 16 publications

References 177 publications

Adult progeria: a new mutation in the WRN gene

Adult progeria: a new mutation in the WRN gene

Fascia Mobility, Proprioception, and Myofascial Pain

Nephrogenic systemic fibrosis–related pulmonary restriction: An under-appreciated manifestation potentially reversible with imatinib therapy

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