1,112 results match your criteria Cutis Laxa Elastolysis


Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.

Mol Biol Rep 2022 May 20;49(5):4135-4140. Epub 2022 Apr 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Background: Autosomal recessive cutis laxa (ARCL) is a heterogeneous disorder with three primary forms (ARCL 1, ARCL 2 and ARCL 3). Latent transforming growth factor beta binding protein 4 (LTBP4) anomalies cause ARCL1C and are connected to different problems in the skin and other organs. Herein, we present a seven month old Iranian boy with a clinical manifestation of ARCL1 with literature review of previous cases with attributes of ARCL1C. Read More

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Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Front Genet 2022 31;13:852764. Epub 2022 Mar 31.

Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, China.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study. Read More

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Clinical commentary about foreign body complications over 20 years after polymethyl-methacrylate face implants and control of late sequelae with Polynucleotides Highly Purified Technology (PN-HPT ).

J Cosmet Dermatol 2022 Mar 31. Epub 2022 Mar 31.

Clinical Pharmacology and Toxicology Consultant in Aesthetic Medicine, Milan, Italy.

Introduction: Mainly in the past, foreign body complications, including granuloma, were pretty frequent after semi-permanent polymethyl-methacrylate (PMMA) implants.

Results: The authors describe a twenty-year history of recurring post-PMMA complications interspersed by long uneventful years, with acute edematous side effects evolving into unpleasant skin dystrophia with persistent cutis laxa. The case report also discusses a simple clinical algorithm to discriminate among foreign body complications with particular attention to granulomas. Read More

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Congenital Cutis Laxa: A Case Report and Literature Review.

Front Surg 2022 16;9:814897. Epub 2022 Mar 16.

Department of Plastic Surgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Cutis Laxa is a rare connective tissue disease featuring inelastic and saggy skin. It is thought that plastic surgery might be the most effective treatment, while the previous pieces of literature on the surgical treatment for Cutis Laxa complained of the recurrence. We report a patient of Congenital Cutis Laxa who has received systematic and sequential treatment based on plastic surgery. Read More

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Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis.

Auris Nasus Larynx 2022 Feb 28. Epub 2022 Feb 28.

Department of Otolaryngology, The University of Tokyo, Tokyo, Japan.

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis, characterized by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. We report a case of HGA presenting with bilateral facial palsy. A 70-year-old Japanese man presented with slowly progressive bilateral facial palsy and facial twitching, which had started in his 40s. Read More

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February 2022

Correction to: Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis.

Adv Exp Med Biol 2021 ;1348:C1

Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.

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January 2021

Giant Aortic Aneurysm in Child with Cutis Laxa Syndrome: Unusual Presentation, New Surgical Technique.

Heart Surg Forum 2021 Dec 17;24(6):E1054-E1056. Epub 2021 Dec 17.

1Department of Anesthesia and Critical Care, King Abdul-Aziz University Hospital, Jeddah, Kingdom Saudi Arabia;.

Ascending thoracic aortic aneurysms are rare in childhood and typically are seen in the setting of connective tissue defect syndromes. These aneurysms may lead to rupture, dissection, or valvular insufficiency, so root replacement is recommended. Here, we present a 17-month-old girl who presented with fever, cough, and pericardial effusion. Read More

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December 2021

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.

Comput Struct Biotechnol J 2021 19;19:6355-6365. Epub 2021 Nov 19.

Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Milano, Italy.

Gelsolin comprises six homologous domains, named G1 to G6. Single point substitutions in this protein are responsible for AGel amyloidosis, a hereditary disease causing progressive corneal lattice dystrophy, cutis laxa, and polyneuropathy. Although several different amyloidogenic variants of gelsolin have been identified, only the most common mutants present in the G2 domain have been thoroughly characterized, leading to clarification of the functional mechanism. Read More

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November 2021

Acquired cutis laxa type II (Marshall syndrome) in a 3-month-old boy.

Pediatr Dermatol 2022 Mar 20;39(2):312-313. Epub 2021 Dec 20.

Departments of Dermatology and Pathology, All India Institute of Medical Sciences, New Delhi, India.

Acquired cutis laxa type II (Marshall syndrome) is a post-inflammatory elastolysis occurring in infancy and childhood. It is challenging to treat with very few effective treatment options available. Herein, we describe the case of a 3-month-old boy with acquired cutis laxa type II secondary to a neutrophilic dermatosis. Read More

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The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease.

Cureus 2021 Nov 8;13(11):e19359. Epub 2021 Nov 8.

Division of Cardiac Surgery, Cardiovascular Department, King Faisal Specialist Hospital and Research Center, Jeddah, SAU.

Cutis laxa syndrome is an uncommon connective tissue disorder affecting the major ultrastructure of the skin by progressive loss of elasticity. The results of this syndrome lead to the appearance of premature aging, which might also affect the internal organs. The disorder can be either congenital or acquired. Read More

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November 2021

Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.

Front Cardiovasc Med 2021 24;8:756765. Epub 2021 Nov 24.

Department of Cardiology, Government General Hospital, Ernakulam, India.

Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. Read More

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November 2021

Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa.

J Eur Acad Dermatol Venereol 2022 05 22;36(5):e354-e356. Epub 2021 Dec 22.

Department of Dermatology, Grenoble Alpes University Hospital, Grenoble, France.

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

Echocardiography 2021 12 29;38(12):2095-2099. Epub 2021 Nov 29.

Paediatric Cardiology Division, Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.

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. Read More

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December 2021

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Adv Exp Med Biol 2021 ;1348:273-309

Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.

Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian- forms exist. Acquired forms are progressive and often preceded by inflammatory triggers in the skin, but may show systemic elastolysis. Read More

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November 2021

Loeys-Dietz Syndrome.

Adv Exp Med Biol 2021 ;1348:251-264

Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.

Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. Read More

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November 2021

Basic Components of Connective Tissues and Extracellular Matrix: Fibronectin, Fibrinogen, Laminin, Elastin, Fibrillins, Fibulins, Matrilins, Tenascins and Thrombospondins.

Authors:
Jaroslava Halper

Adv Exp Med Biol 2021 ;1348:105-126

Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership, The University of Georgia, Athens, GA, USA.

Collagens are the most abundant components of the extracellular matrix (ECM) and many types of soft tissues. Elastin is another major component of certain soft tissues, such as arterial walls and ligaments. It is an insoluble polymer of the monomeric soluble precursor tropoelastin, and the main component of elastic fibers in matrix tissue where it provides elastic recoil and resilience to a variety of connective tissues, e. Read More

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November 2021

Introduction.

Authors:
Jaroslava Halper

Adv Exp Med Biol 2021 ;1348:1-3

Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership, The University of Georgia, Athens, GA, USA.

Just like the first edition of this widely successful book the second edition provides latest updates of our understanding of pathophysiology, pathology, clinical presentation and treatment of heritable soft connective tissue diseases. In addition, new knowledge of not only structures but also of functions of basic components of connective tissues (e.g. Read More

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November 2021

Pseudoxanthoma Elasticum With Cutis Laxa-Like Features.

JAMA Dermatol 2022 01;158(1):99

Department of Dermatology, Georgetown University MedStar Washington Hospital Center, Chevy Chase, Maryland.

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January 2022

Severe cutis laxa caused by immunoglobulin M gammopathy.

Br J Haematol 2022 02 10;196(4):802. Epub 2021 Nov 10.

Haematology, Northwest Clinics, Alkmaar, the Netherlands.

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February 2022

Severe ocular involvement in hereditary gelsolin amyloidosis.

Porto Biomed J 2021 Sep-Oct;6(5):e146. Epub 2021 Oct 11.

Ophthalmology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.

Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Read More

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October 2021

Chronic urticaria may not be as innocent as we think: A rare case of acquired cutis laxa following chronic urticaria.

J Cosmet Dermatol 2021 Oct 8. Epub 2021 Oct 8.

Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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October 2021

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.

J Dermatol 2022 Jan 2;49(1):161-164. Epub 2021 Oct 2.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2-year-old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c. Read More

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January 2022

Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4.

Front Genet 2021 3;12:706662. Epub 2021 Sep 3.

Wellcome Trust Centre for Cell Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Science, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

Latent TGFβ binding protein-4 (LTBP4) is a multi-domain glycoprotein, essential for regulating the extracellular bioavailability of TGFβ and assembly of elastic fibre proteins, fibrillin-1 and tropoelastin. LTBP4 mutations are linked to autosomal recessive cutis laxa type 1C (ARCL1C), a rare congenital disease characterised by high mortality and severely disrupted connective tissues. Despite the importance of LTBP4, the structure and molecular consequences of disease mutations are unknown. Read More

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September 2021

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.

Eur J Med Genet 2021 Dec 16;64(12):104342. Epub 2021 Sep 16.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.

Background: Proteoglycans (PGs) are complex macromolecules consisting of a core protein and glycosaminoglycan (GAG) side chains. PGs are important for the constitution and functioning of the connective tissue. The normal composition of the GAG side chains defines the nature of the PGs and a wide range of biological events. Read More

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December 2021

Generalized acquired cutis laxa and urticarial dermatosis associated with k-chain IgA micromolecular myeloma.

Dermatol Reports 2021 Aug 5;13(2):9146. Epub 2021 Aug 5.

IDI-IRCCS, Dermatological Research Hospital, Rome, Italy.

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Menkes disease diagnosed by a frameshift mutation in a patient with infantile spasms-a case report.

Transl Pediatr 2021 Jul;10(7):1965-1971

Department of Pediatrics, West China Second University Hospital of Sichuan University.

Menkes disease (MD) is a rare congenital copper deficiency disease caused by an adenosine triphosphatase copper transporting alpha () gene mutation. It is a progressive and systemic disease that primarily involves the central nervous system and connective tissues. The clinical manifestation of these patients with MD is curly hair, progressive muscle tone reduction, and convulsions, and often leads to death in early infancy. Read More

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