Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology

Beyens, Aude; Boel, Annekatrien; Symoens, Sofie; Callewaert, Bert

doi:10.1111/cge.13865

Cited by 35 publications

(43 citation statements)

References 61 publications

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“… 14 , 28 Cutis laxa is a genetically variable disease characterized by defective elastin metabolism and abnormal elastic fibers, which contribute to inelastic, saggy skin that affects the whole body; some cases are inherited (via 3 possible modes of inheritance: autosomal dominant, autosomal recessive, or X-linked recessive) and others are acquired (ie, acquired cutis laxa). 14 , 29 , 30 To date, there are no specific treatments for cutis laxa; thus, a better understanding of the disruption of, and approaches to repairing, elastic fiber networks could potentially assist patients with this disease.…”

Section: Clinical Relevance Of Elastinmentioning

confidence: 99%

Clinical Relevance of Elastin in the Structure and Function of Skin

Baumann

Bernstein

Weiss

et al. 2021

Aesthetic Surgery Journal Open Forum

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Elastin is the main component of elastic fibers, which provide stretch, recoil, and elasticity to the skin. Normal levels of elastic fiber production, organization, and integration with other cutaneous extracellular matrix proteins, proteoglycans, and glycosaminoglycans are integral to maintaining healthy skin structure, function, and youthful appearance. Although elastin has very low turnover, its production decreases after individuals reach maturity and it is susceptible to damage from many factors. With advancing age and exposure to environmental insults, elastic fibers degrade. This degradation contributes to the loss of the skin’s structural integrity; combined with subcutaneous fat loss, this results in looser, sagging skin, causing undesirable changes in appearance. The most dramatic changes occur in chronically sun-exposed skin, which displays sharply altered amounts and arrangements of cutaneous elastic fibers, decreased fine elastic fibers in the superficial dermis connecting to the epidermis, and replacement of the normal collagen-rich superficial dermis with abnormal clumps of solar elastosis material. Disruption of elastic fiber networks also leads to undesirable characteristics in wound healing, and the worsening structure and appearance of scars and stretch marks. Identifying ways to replenish elastin and elastic fibers should improve the skin’s appearance, texture, resiliency, and wound-healing capabilities. However, few therapies are capable of repairing elastic fibers or substantially reorganizing the elastin/microfibril network. This review describes the clinical relevance of elastin in the context of the structure and function of healthy and aging skin, wound healing, and scars and introduces new approaches being developed to target elastin production and elastic fiber formation.

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Section: Clinical Relevance Of Elastinmentioning

confidence: 99%

Clinical Relevance of Elastin in the Structure and Function of Skin

Baumann

Bernstein

Weiss

et al. 2021

Aesthetic Surgery Journal Open Forum

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“…Acquired cutis laxa is a rare skin condition that is associated with prior inflammatory diseases that results in elastolysis [41,42]. However, recent reports showed that the presence of an underlying monoclonal gammopathy as a potential cause [43][44][45].…”

Section: Acquired Generalized Cutis Laxamentioning

confidence: 99%

Treatment of Patients with Monoclonal Gammopathy of Clinical Significance

Moreno

Rosiñol

Cibeira

et al. 2021

Cancers

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Monoclonal gammopathy of undetermined significance (MGUS) is defined as the presence of a monoclonal protein (M-protein) produced by a small amount of plasma cells. The majority of patients remain asymptomatic; however, a fraction of them develop clinical manifestations related to the monoclonal gammopathy despite not fulfilling criteria of multiple myeloma or other lymphoproliferative disorder. These patients constitute an emerging clinical issue coined as monoclonal gammopathy of clinical significance (MGCS). The mechanisms involved are poorly understood, and literature is scarce regarding management. The clinical spectrum involves symptoms related to renal, neurologic, skin, ocular, or bleeding manifestations, requiring a multidisciplinary approach. Treatment strategies rely on the basis of symptomatic disease and the M-protein isotype. In this review, we focus on MGCS other than renal, as the latter was earliest recognized and better known. We review the literature and discuss management from diagnosis to treatment based on illustrative cases from daily practice.

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“…In cases with ARCL1B, the clinical picture varies in severity from mild form associated with vascular abnormalities (aneurysms, stenosis, tortuosity) and craniofacial dysmorphism to severe fatal form associated with severe musculoskeletal deformities and prenatal mortality. [1][2][3] We are reporting a case of ARCL1B presented with cardiac tamponade secondary to impending rupture of a giant aneurysm of the ascending aorta and the aortic arch.…”

Section: Introductionmentioning

confidence: 99%

Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa

2021

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Aortic aneurysms are rare in the pediatric age group and are commonly caused by genetic disorders associated with vasculopathy, weakness and fragility of arterial walls with progressive dilatation or even rupture. We reported a giant aortic aneurysm involving the ascending aorta and aortic arch in a 20-month-old girl with autosomal recessive cutis laxa type 1B (ARCL1B) who presented with hemorrhagic pericardial effusion and tamponade (impending rupture). Successful surgical repair has been done through excision of the aneurysmal part and replacement by Hemashield graft with preservation of the aortic valve.

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Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology

Cited by 35 publications

References 61 publications

Clinical Relevance of Elastin in the Structure and Function of Skin

Clinical Relevance of Elastin in the Structure and Function of Skin

Treatment of Patients with Monoclonal Gammopathy of Clinical Significance

Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa

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