1,027 results match your criteria Cutis Laxa Elastolysis


Acral localized acquired cutis laxa as presenting sign of underlying systemic amyloidosis.

J Cutan Pathol 2020 Jun 28. Epub 2020 Jun 28.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

Acral localized acquired cutis laxa (ALACL) is a rare variant of acquired cutis laxa, and the clinical appearance is characterized by loose, redundant and wrinkled skin of the distal extremities. By definition, histology of affected tissue reveals sparse or fragmented elastic fibers. However, this can be difficult to assess on routine staining, and sometimes requires electron microscopy. Read More

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http://dx.doi.org/10.1111/cup.13791DOI Listing

A blackberry-dill extract combination synergistically increases skin elasticity.

Int J Cosmet Sci 2020 Jun 24. Epub 2020 Jun 24.

Johnson &, Johnson Consumer Inc, Skillman, NJ, USA.

The elastin fiber network in the dermis enables the skin to stretch and recoil. Unlike other extracellular matrix (ECM) components such as collagen and hyaluronic acid, which are continually synthesized and assembled through life, elastic fibers are primarily synthesized during late gestation and early childhood, have a half-life of about 70 years, and are therefore considered to persist through an individual's lifespan. However, due to common aging processes, accelerated by environmental factors, elastic fibers are enzymatically degraded through elastases and cannot be repaired or replaced properly. Read More

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http://dx.doi.org/10.1111/ics.12644DOI Listing

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

J Inherit Metab Dis 2020 May 17. Epub 2020 May 17.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. Read More

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http://dx.doi.org/10.1002/jimd.12255DOI Listing
May 2020
3.365 Impact Factor

Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.

Genes (Basel) 2020 May 13;11(5). Epub 2020 May 13.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Read More

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http://dx.doi.org/10.3390/genes11050547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288446PMC

Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.

Mol Vis 2020 2;26:345-354. Epub 2020 May 2.

Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico.

Purpose: Familial amyloidosis of the Finnish type (FAF) is an inherited amyloidosis arising from mutations in the gelsolin protein (GSN). The disease includes facial paralysis, loose skin, and lattice corneal dystrophy. To date, FAF has been invariably associated with substitution of Asp214 in GSN. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195602PMC

A rare case of bladder diverticulosis.

Clin Imaging 2020 Apr 18;65:33-36. Epub 2020 Apr 18.

Department of Radiology, Papa Giovanni XXIII Hospital, Bergamo, Italy.

The incidence of bladder diverticula in the pediatric population is unknown as they are often asymptomatic. A minority of cases are a manifestation of a genetic syndrome. Primary diverticula have different features compared to secondary diverticula, which are generally caused by an obstructive or iatrogenic mechanism. Read More

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http://dx.doi.org/10.1016/j.clinimag.2020.04.013DOI Listing

Identification of a Novel 19-bp Deletion Mutation in Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.

J Pediatr Genet 2020 Jun 22;9(2):125-131. Epub 2019 Oct 22.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S. Read More

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http://dx.doi.org/10.1055/s-0039-1698806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183407PMC

Acquired Cutis Laxa.

Authors:
Ankur Jain

Turk J Haematol 2020 Apr 24. Epub 2020 Apr 24.

Assistant Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi-110029, India.

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http://dx.doi.org/10.4274/tjh.galenos.2020.2020.0121DOI Listing

[Congenital cutis laxa: a case study].

Pan Afr Med J 2019 12;34:195. Epub 2019 Dec 12.

Service de Pédiatrie, CHU Mohammed VI, Université Mohammed I, Oujda, Maroc.

"Cutis laxa" (CL) are rare elastic tissue disorders characterized by loose, sagging skin. They can be a congenital or acquired condition. Inherited cutis laxa is a heterogeneous group of disorders characterized by the severity of their visceral involvement and by their mode of transmission. Read More

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http://dx.doi.org/10.11604/pamj.2019.34.195.17110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060907PMC
December 2019

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.

Neuropediatrics 2020 Mar 6. Epub 2020 Mar 6.

Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.

Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described. Read More

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http://dx.doi.org/10.1055/s-0040-1701671DOI Listing

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa.

Clin Dysmorphol 2020 Jul;29(3):132-136

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000320DOI Listing

Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance.

Case Rep Dermatol Med 2020 12;2020:7480607. Epub 2020 Feb 12.

Division of Hematology/Oncology and Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Background: Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity. This heterogeneous connective tissue disorder may be localized or generalized, with or without internal manifestations. Generalized cutis laxa often has a cephalocaudal progression and is attributed to inflammatory cutaneous eruptions, medications, and infections. Read More

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http://dx.doi.org/10.1155/2020/7480607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037480PMC
February 2020

Lysyl Oxidase Like 1: Biological roles and regulation.

Exp Eye Res 2020 Apr 15;193:107975. Epub 2020 Feb 15.

UCD Clinical Research Centre, School of Medicine, University College Dublin, Ireland.

Lysyl Oxidase Like 1 (LOXL1) is a gene that encodes for the LOXL1 enzyme. This enzyme is required for elastin biogenesis and collagen cross-linking, polymerising tropoelastin monomers into elastin polymers. Its main role is in elastin homeostasis and matrix remodelling during injury, fibrosis and cancer development. Read More

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http://dx.doi.org/10.1016/j.exer.2020.107975DOI Listing

The Earliest Illustration of Cutis Laxa Macroscopic Pattern in Jan van Eyck's Lucca Madonna.

Authors:
Moisey Moldavsky

Isr Med Assoc J 2020 02;22(2):127-129

Department of Pathology, Ziv Medical Center, Safed, Israel.

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February 2020

Δ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

J Inherit Metab Dis 2020 Feb 4. Epub 2020 Feb 4.

Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.

The bifunctional homooligomeric enzyme Δ -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disability, short stature, cataracts, cutis laxa, and joint laxity, were found to carry biallelic ALDH18A1 mutations. They showed biochemical indications of decreased ornithine/proline synthesis, agreeing with the role of P5CS in the biosynthesis of these amino acids. Read More

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http://dx.doi.org/10.1002/jimd.12220DOI Listing
February 2020

Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.

Orphanet J Rare Dis 2020 01 17;15(1):19. Epub 2020 Jan 17.

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, HYKS, Tornisairaala, Neupkl, Haartmaninkatu 4, 00029 HUS, Helsinki, Finland.

Background: Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. Read More

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http://dx.doi.org/10.1186/s13023-020-1300-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969418PMC
January 2020

Type II acquired cutis laxa associated with recurrent urticarial vasculitis: brief report.

Allergy Asthma Clin Immunol 2020 3;16. Epub 2020 Jan 3.

1Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022 China.

Background: Cutis laxa is a connective tissue disease characterized by loose, wrinkled, and redundant skin. It is either inherited or acquired. In most cases, acquired cutis laxa is associated with neoplasms, drugs, and autoimmune diseases. Read More

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http://dx.doi.org/10.1186/s13223-019-0401-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942328PMC
January 2020

An incidental finding in newborn screening leading to the diagnosis of a patient with mutations.

Mol Genet Metab Rep 2020 Mar 2;22:100553. Epub 2020 Jan 2.

Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.

Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exercise-induced dystonia and congenital lactic acidosis. Here we describe the case of a newborn with mutations in ECHS1 that caught our attention after the incidental finding of 3-hydroxy-butyryl\3-hydroxy-isobutyryl\malonylcarnitine (C4OH\C3DC) and tiglylcarnitine (C5:1) on blood spot in the newborn screening (NBS) program. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940607PMC

Granulomatous slack skin mycosis fungoides developing simultaneously with sarcoid-like lesions in a patient with repeated anabolic injections in the past?

Dermatol Ther 2020 01 6;33(1):e13200. Epub 2020 Jan 6.

Onkoderma-Clinic for Dermatology, Venereology and Dermatologic Surgery, Sofia, Bulgaria.

We present a 32-year-old man with successful treatment and remission of mycosis fungoides of both axillae in 2016 after PUVA therapy and systemic and local administration of corticosteroids. Subsequently, in 2017, the patient also achieved remission of a T-cell CD 30 positive, ALK-1 negative large-cell lymphoma of a retroperitoneal and inguinal lymph node after chemotherapy and radiotherapy. One year later, in 2018, the patient presented to our clinic with progression of skin lesions in both axillary areas and the appearance of а tumor in the right gluteal region. Read More

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http://dx.doi.org/10.1111/dth.13200DOI Listing
January 2020
1.478 Impact Factor

Severe elastolysis in hereditary gelsolin (AGel) amyloidosis.

Amyloid 2020 Jun 9;27(2):81-88. Epub 2019 Dec 9.

Department of Neurosciences, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

AGel amyloidosis is a dominantly inherited systemic amyloidosis caused by mutations p.D214N or p.D214Y resulting in gelsolin amyloid (AGel) formation. Read More

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http://dx.doi.org/10.1080/13506129.2019.1699785DOI Listing

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Eur J Hum Genet 2020 Apr 2;28(4):445-452. Epub 2019 Dec 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components of extracellular matrix (ECM). The fibulin glycoproteins are ECM proteins important for integrity of tissues including dermis, retina, fascia, and vasculature. Read More

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http://dx.doi.org/10.1038/s41431-019-0546-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080811PMC

Acquired cutis laxa secondary to Sweet syndrome in a child (Marshall syndrome): A rare case report.

J Cutan Pathol 2020 Feb 30;47(2):146-149. Epub 2019 Aug 30.

Department of Dermatology, N.H.L. Medical College, Ahmedabad, Gujarat, India.

Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been reported. Read More

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http://dx.doi.org/10.1111/cup.13567DOI Listing
February 2020
3 Reads

Lenz-Majewski syndrome in a patient from Egypt.

Am J Med Genet A 2019 10 12;179(10):2039-2042. Epub 2019 Aug 12.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Lenz-Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in PTDSS1 gene. We report an Egyptian patient who presented with cutis laxa, brachydactyly, and progeroid features. LMS syndrome was suspected and a previously reported de novo heterozygous missense mutation (c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61327DOI Listing
October 2019
8 Reads

[Analysis of ELN gene mutation in a pedigree affected with cutis laxa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):785-788

Medical Genetics Institute of Henan Province, Henan Provincial People' s Hospital, Zhengzhou, Henan 450003, China.

Objective: To carry out genetic diagnosis for a pedigree affected with cutis laxa.

Methods: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.08.008DOI Listing
August 2019
4 Reads

Giant aortic aneurysm due to fibulin- 4 deficiency: case series.

Turk Pediatri Ars 2019 11;54(2):119-124. Epub 2019 Jul 11.

Department of Pediatric Cardiology, Süleymaniye Maternity Training and Research Hospital, İstanbul, Turkey.

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. Read More

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http://dx.doi.org/10.5152/TurkPediatriArs.2018.4658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666362PMC
July 2019
3 Reads

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Clin Genet 2019 11 6;96(5):456-460. Epub 2019 Aug 6.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. Read More

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http://dx.doi.org/10.1111/cge.13612DOI Listing
November 2019
3 Reads

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Genes (Basel) 2019 07 12;10(7). Epub 2019 Jul 12.

Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.

Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical features, including cutis laxa, bony exostoses, and bladder diverticula are attributed to a decreased activity of lysyl oxidase (LOX), a cupro-enzyme involved in collagen crosslinking. The absence of large case series and natural history studies precludes efficient diagnosis and management of OHS patients. Read More

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http://dx.doi.org/10.3390/genes10070528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678539PMC
July 2019
9 Reads

Golgi pH, Ion and Redox Homeostasis: How Much Do They Really Matter?

Front Cell Dev Biol 2019 11;7:93. Epub 2019 Jun 11.

Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.

Exocytic and endocytic compartments each have their own unique luminal ion and pH environment that is important for their normal functioning. A failure to maintain this environment - the loss of homeostasis - is not uncommon. In the worst case, all the main Golgi functions, including glycosylation, membrane trafficking and protein sorting, can be perturbed. Read More

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http://dx.doi.org/10.3389/fcell.2019.00093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584808PMC
June 2019
5 Reads

Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa.

Am J Ophthalmol Case Rep 2019 Sep 30;15:100477. Epub 2019 May 30.

Cornell University, Department of Ophthalmology, 1305 York Ave at East 70th St, New York, NY, 1002, USA.

Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa.

Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. Read More

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http://dx.doi.org/10.1016/j.ajoc.2019.100477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551565PMC
September 2019
7 Reads

Comparative Transcriptome Analysis of Unusual Localized Skin Laxity in Sika Deer ().

DNA Cell Biol 2019 Jul 12;38(7):670-677. Epub 2019 Jun 12.

1 Institute of Special Animals and Plant Sciences, Chinese Academy of Agricultural Sciences, Changchun, China.

Cutis laxa represents a heterogeneous group of rare, inherited, or acquired connective tissue disorders with the common feature of loose and redundant skin with decreased elasticity. The skin of affected deer showed abnormal collagen fiber morphology. To identify the differentially expressed genes of the unusual localized skin laxity in sika deer, we performed transcriptome analysis in the affected and control sika deer. Read More

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https://www.liebertpub.com/doi/10.1089/dna.2019.4730
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http://dx.doi.org/10.1089/dna.2019.4730DOI Listing
July 2019
21 Reads

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Mol Genet Genomic Med 2019 07 21;7(7):e00735. Epub 2019 May 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

Background: Cutis laxa (CL) is a group of rare connective tissue disorders mainly characterized by wrinkled, redundant, inelastic, and sagging skin. Besides skin anomalies, in most CL forms multiple organs are involved, leading to severe multisystem disorders involving skeletal, cardiovascular, pulmonary, and central nervous systems. CL might be challenging to diagnose because of its different inheritance patterns, extensive phenotypic variability, and genetic heterogeneity. Read More

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http://dx.doi.org/10.1002/mgg3.735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625097PMC
July 2019
6 Reads

Zebrafish Carrying Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.

Cells 2019 05 14;8(5). Epub 2019 May 14.

Department of Bioscience Technology, Chung Yuan Christian University, Chung-Li 32023, Taiwan.

Aging is a natural process that internal gene control and external stimuli mediate. Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 () gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes. In this study, we aimed to generate knockout (KO) zebrafish and carried out biochemical characterizations and behavior analyses. Read More

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http://dx.doi.org/10.3390/cells8050453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562453PMC
May 2019
5 Reads

Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B.

Indian J Pediatr 2019 11 4;86(11):1058. Epub 2019 May 4.

Department of Neonatology, JIPMER, Puducherry, India.

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http://dx.doi.org/10.1007/s12098-019-02975-8DOI Listing
November 2019
5 Reads

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. Read More

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http://www.nature.com/articles/s10038-019-0602-8
Publisher Site
http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019
29 Reads

Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.

Am J Respir Crit Care Med 2019 09;200(6):677-690

Channing Division of Network Medicine and.

Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors. For many years, knowledge of the genetic basis of COPD was limited to Mendelian syndromes, such as alpha-1 antitrypsin deficiency and cutis laxa, caused by rare genetic variants. Over the past decade, the proliferation of genome-wide association studies, the accessibility of whole-genome sequencing, and the development of novel methods for analyzing genetic variation data have led to a substantial increase in the understanding of genetic variants that play a role in COPD susceptibility and COPD-related phenotypes. Read More

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http://dx.doi.org/10.1164/rccm.201808-1455SODOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775891PMC
September 2019
36 Reads

Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019018. Epub 2019 Mar 1.

National Institute of Immunohaematology, 13 the floor KEM hospital MS building, Parel, Mumbai 400012, Maharashtra, India.

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. Read More

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https://www.mjhid.org/index.php/mjhid/article/view/2019.018
Publisher Site
http://dx.doi.org/10.4084/MJHID.2019.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402545PMC
March 2019
137 Reads

Acquired Localized Cutis Laxa: A Case Report and the Role of Plastic Surgery.

Indian J Dermatol 2019 Jan-Feb;64(1):55-58

Department of Plastic and Reconstructive Surgery, King George Medical University, Lucknow, Uttar Pradesh, India.

Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement. Congenital cutis laxa is common in comparison to acquired cutis laxa and has varied inheritance patterns. Treatment is chiefly observation in congenital cutis laxa, and there is a paucity of literature on surgical management in acquired cutis laxa. Read More

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http://dx.doi.org/10.4103/ijd.IJD_14_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340237PMC
February 2019
24 Reads

Blepharochalasis: A rare presentation of cutis laxa.

Actas Dermosifiliogr 2019 May 2;110(4):327-329. Epub 2019 Feb 2.

Servicio de Dermatología, Hospital Universitario, Escuela de Medicina, Universidad Federal de Río de Janeiro, Río de Janeiro, Brasil. Electronic address:

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http://dx.doi.org/10.1016/j.ad.2018.04.006DOI Listing
May 2019
9 Reads

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

BMC Dermatol 2019 01 31;19(1). Epub 2019 Jan 31.

Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.

Background: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. Read More

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https://bmcdermatol.biomedcentral.com/articles/10.1186/s1289
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http://dx.doi.org/10.1186/s12895-019-0084-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357400PMC
January 2019
32 Reads

Cutaneous Elastic Tissue Anomalies.

Am J Dermatopathol 2019 Feb;41(2):85-117

Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.

After a review of the physiology in the formation and degradation of cutaneous elastic tissue, we describe the clinicopathologic disorders characterized by increased and decreased cutaneous elastic tissue. Cutaneous disorders characterized by increased and/or abnormal elastic tissue in the dermis include elastoma, also named nevus elasticus, dermatosis lenticularis disseminata, pseudoxanthoma elasticum, late-onset focal dermal elastosis, linear focal elastosis, elastoderma, elastofibroma dorsi, and elastosis perforans serpiginosa. In some of these conditions, the specific histopathologic diagnosis may be rendered with hematoxylin-eosin stain, whereas in other ones special elastic tissue stains are necessary to demonstrate the anomalies. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001275DOI Listing
February 2019
22 Reads

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 06;199(11):1344-1357

5 Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; and.

A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: ) pneumothorax can cluster in families (i.e., familial spontaneous pneumothorax), ) mutations in the gene have been found in both familial and sporadic cases, and ) pneumothorax is a known complication of several genetic syndromes. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
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http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543724PMC
June 2019
47 Reads
12.996 Impact Factor

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

Clin Dysmorphol 2019 Apr;28(2):63-65

Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey.

FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000258DOI Listing
April 2019
16 Reads

Novel Mutation in a Patient With APLAID and Cutis Laxa.

Front Immunol 2018 14;9:2863. Epub 2018 Dec 14.

Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the gene previously described in two patients from one family. The APLAID patients presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) and recurrent sinopulmonary infections caused by a humoral defect, but lacked circulating autoantibodies and had no cold-induced urticaria, contrary to the patients with the related PLAID syndrome. We describe a new APLAID patient who presented with vesiculopustular rash in the 1st weeks of life, followed by IBD, posterior uveitis, recurrent chest infections, interstitial pneumonitis, and also had sensorineural deafness and cutis laxa. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02863
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http://dx.doi.org/10.3389/fimmu.2018.02863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302768PMC
October 2019
33 Reads

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

JAMA Dermatol 2019 02;155(2):257-259

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, England.

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http://dx.doi.org/10.1001/jamadermatol.2018.4665DOI Listing
February 2019
6 Reads

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Neuromuscul Disord 2019 01 8;29(1):75-79. Epub 2018 Nov 8.

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Institut de Myologie, CHU La Pitié-Salpêtrière, APHP, Paris, France.

PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183115
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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019
29 Reads

A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.

Aging Dis 2018 Dec 4;9(6):1043-1057. Epub 2018 Dec 4.

2Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

Aging is a complex biological process. A study of pyrroline-5-carboxylate reductase 1 (PYCR1) deficiency, which causes a progeroid syndrome, may not only shed light on its genetic contribution to autosomal recessive cutis laxa (ARCL) but also help elucidate the functional mechanisms associated with aging. In this study, we used RNA-Seq technology to examine gene expression changes in primary skin fibroblasts from healthy controls and patients with mutations. Read More

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http://dx.doi.org/10.14336/AD.2018.0222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284769PMC
December 2018
8 Reads

Platelet-rich Plasma for Skin Rejuvenation and Treatment of Actinic Elastosis in the Lower Eyelid Area.

Cureus 2018 Jul 18;10(7):e2999. Epub 2018 Jul 18.

Plastic Surgery, Waldkrankenhaus Bonn, Bonn, DEU.

Background Treatment of the lower eyelid region to rejuvenate the skin or treat actinic elastosis often proves difficult. Established treatment options, such as hyaluronic acid injections, botulinum toxin injections, microneedling, skin resurfacing (microdermabrasion, chemical peel (exfoliation), laser treatment), as well as blepharoplasties and autologous fat transfers, can be associated with significant risks and increased patient burden. Furthermore, they may not be effective for treating the signs of skin aging or actinic elastosis, including dark rings under the eyes, a lack of volume and cutis laxa. Read More

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https://www.cureus.com/articles/11999-platelet-rich-plasma-f
Publisher Site
http://dx.doi.org/10.7759/cureus.2999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260498PMC
July 2018
61 Reads

A Novel Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

Turk J Haematol 2019 02 26;36(1):29-36. Epub 2018 Nov 26.

İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey

Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose and elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in . Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. Read More

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373508PMC
February 2019
17 Reads

Acquired Cutis Laxa Presenting as Pedunculated Eyelid Plaques in an Adult.

Ophthalmology 2018 12;125(12):1952

Department of Ophthalmology, University of Montreal, Montreal, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183210
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http://dx.doi.org/10.1016/j.ophtha.2018.08.028DOI Listing
December 2018
7 Reads