Cutis laxa: A review

Berk, David R.; Bentley, Danette D.; Bayliss, Susan J.; Lind, Anne C.; Urban, Zsolt

doi:10.1016/j.jaad.2011.01.004

Cited by 182 publications

(167 citation statements)

References 129 publications

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“…Mutations in accessory glycoproteins such as fibulins-4 or -5 cause autosomal recessive cutis laxa (ARCL) (Ref. 8), and in a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin-10 (ADAMTS-10) cause Weill-Marchesani syndrome (WMS) (Ref. 9).…”

Section: Teleosteimentioning

confidence: 99%

Elastic fibres in health and disease

Baldwin

Simpson

Steer

et al. 2013

Expert Rev. Mol. Med.

243

158

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Elastic fibres are insoluble components of the extracellular matrix of dynamic connective tissues such as skin, arteries, lungs and ligaments. They are laid down during development, and comprise a cross-linked elastin core within a template of fibrillin-based microfibrils. Their function is to endow tissues with the property of elastic recoil, and they also regulate the bioavailability of transforming growth factor β. Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill–Marchesani syndrome, and mutations in fibulins-4 and -5 cause autosomal recessive cutis laxa. Acquired elastic fibre defects include dermal elastosis, whereas inflammatory damage to fibres contributes to pathologies such as pulmonary emphysema and vascular disease. This review outlines the latest understanding of the composition and assembly of elastic fibres, and describes elastic fibre diseases and current therapeutic approaches.

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Section: Teleosteimentioning

confidence: 99%

Elastic fibres in health and disease

Baldwin

Simpson

Steer

et al. 2013

Expert Rev. Mol. Med.

243

158

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“…The typical features diagnostic for the syndromes were not apparent at birth 29 and patients could be Other syndromes with neurological symptoms include, for example, Keutel syndrome, a disorder with hearing loss, cartilaginous ossification and intellectual disability and mild CL (MIM 245150); Sotos syndrome, an overgrowth syndrome with spasticity and developmental delay (MIM 117550); and Cantu syndrome, a syndrome of hypertrichosis, skeletal dysplasia, cardiomyopathy and intellectual disability (MIM 114620). 30 In this article, we evaluate a large cohort of patients suspected with ARCL based on the clinical phenotype and the presence of neurological features. In search for discriminatory symptoms to find the underlying molecular defect, we propose a diagnostic approach in this genetically heterogeneous neurological disease.…”

Section: Introductionmentioning

confidence: 99%

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

et al. 2013

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Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms. Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders. This makes the genetic diagnosis often challenging. In search for discriminatory symptoms, we prospectively evaluated clinical, neurologic, metabolic and genetic features in our patient cohort referred for suspected ARCL. From a cohort of 26 children, we confirmed mutations in genes associated with ARCL in 16 children (14 probands), including 12 novel mutations. Abnormal glycosylation and gyration abnormalities were mostly, but not always associated with ATP6V0A2 mutations. Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations. So far unreported white matter abnormalities were found associated with GORAB and RIN2 mutations. We describe a large cohort of CL patients with neurologic involvement. Migration defects and corpus callosum hypoplasia were not always diagnostic for a specific genetic defect in CL. All patients with ATP6V0A2 defects had abnormal glycosylation. To conclude, central nervous system and metabolic abnormalities were discriminatory in this genetically heterogeneous group, although not always diagnostic for a certain genetic defect in CL.

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“…Autosomal recessive CL (ARCL) is divided into five subtypes: type 1A, type 1B, type IIA, type IIB, and type III. Aortic aneurysm has been reported as a common finding in type 1A (1,2). We report a new case of ARCL type 1A with a novel FBLN5 mutation, right ventricular non-compaction, and no arterial or valvar involvement.…”

Section: Introductionmentioning

confidence: 77%

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

Rad

Zeinaloo

Kariminejad³

et al. 2016

Iran J Pediatr

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We report on a novel mutation in a two-year-old child with autosomal recessive cutis laxa with severe generalized laxity of the skin, prematurely aged appearance, conjunctival chalasia, episodes of severe rectal prolapse, isolated right ventricular non-compaction, (RVNC), significant pulmonary hypertension at the systemic arterial pressure level, severe tricuspid regurgitation, corpulmonale secondary to recurrent pulmonary infections, and mixed pulmonary fibrosis and emphysema. Next generation sequencing of cutis laxa genes identified a novel homozygous mutation in the FBLN5 gene (homozygous sequence alteration of c.907C > T [p. Gin303*] FBLN5 [ENST00000342058]). Despite severe and generalized disorder in the patient's connective tissues, she had no primary valvar or vascular abnormalities in the heart. Complete speckle-tracking strain imaging (SI) by two-dimensional echocardiography showed decreased systolic longitudinal and transverse strain in the involved segment of the right ventricle (RV).

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Cutis laxa: A review

Cited by 182 publications

References 129 publications

Elastic fibres in health and disease

Elastic fibres in health and disease

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

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