Search our Database of Scientific Publications and Authors

I’m looking for a

    947 results match your criteria Cutis Laxa Elastolysis

    1 OF 19

    Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease.
    Indian Dermatol Online J 2018 Jan-Feb;9(1):44-46
    Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
    Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Read More

    Incidental Detection of Bilateral Large Urinary Bladder Diverticulae on Tc99m Ethylene Dicysteine Renography with Single-photon Emission Computed Tomography-Computed Tomography.
    Indian J Nucl Med 2018 Jan-Mar;33(1):79-81
    Department of Nuclear Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    The complementary anatomical and functional information provided by hybrid imaging with single-photon emission computed tomography-CT (SPECT-CT) is a very useful imaging tool in selected cases where anatomical information is lacking as in the scenario of dynamic renal scintigraphy. The authors present a case of a 5-year-old male child with symptoms suggestive of cutis laxa with urinary tract infection. The child underwent dynamic renal scintigraphy with Tc99m ethylene dicysteine for cortical function and drainage assessment. Read More

    [Clinical and genetic analysis of a patient with cutis laxa].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):100-103
    Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. Email:
    OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Read More

    Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
    Mol Genet Metab 2018 Jan 27. Epub 2018 Jan 27.
    Center for Child and Adolescent Medicine, Department I, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany. Electronic address:
    Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Read More

    Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.
    Ann Thorac Surg 2018 Feb;105(2):e59-e61
    Department of Cardiac Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings. Read More

    Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
    Am J Med Genet A 2018 Mar 17;176(3):668-675. Epub 2018 Jan 17.
    Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
    The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. Read More

    Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.
    Am J Dermatopathol 2018 Jan 11. Epub 2018 Jan 11.
    Division of Dermatopathology, Department of Medicine, University of Arizona, Tucson, AZ.
    Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. Read More

    Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPasesubunits, ATP6V0A2 and ATP6V0A4.
    J Biol Chem 2018 Jan 8. Epub 2018 Jan 8.
    University of Toronto, Canada
    Thesubunit is the largest of 15 different subunits that make up the vacuolar H-ATPase (V-ATPase) complex, where it functions in proton translocation. In mammals, this subunit has four paralogous isoforms,-, which may encode signals for targeting assembled V-ATPases to specific intracellular locations. Despite the functional importance of thesubunit, its structure remains controversial. Read More

    Clinical implications of de Barsy syndrome.
    Paediatr Anaesth 2018 Jan 17;28(1):59-62. Epub 2017 Nov 17.
    Department of Anesthesiology, Mayo Clinic, Rochester, MN, USA.
    Background: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability.

    Aims: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome.

    Methods: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. Read More

    Mutations in the X-linkedcause a glycosylation disorder with autophagic defects.
    J Exp Med 2017 Dec 10;214(12):3707-3729. Epub 2017 Nov 10.
    Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France
    The biogenesis of the multi-subunit vacuolar-type H-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show thatdeficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. Read More

    Peritoneal Dialysis Catheter Removal Post-Transplant - A Rare Case of Delayed Bowel Perforation.
    Perit Dial Int 2017 Nov-Dec;37(6):650-651
    Nottingham Renal and Urology Unit, Nottingham Children's Hospital, QMC, Nottingham, UK.
    Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheterspost-transplantation widely accepted. We present a rare complication: a child presenting with anal protrusion of the PD catheter.The patient is an 11-year-old boy with a background of renal dysplasia and congenital cutis laxa. Read More

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
    Am J Hum Genet 2017 Nov;101(5):833-843
    Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:
    Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c. Read More

    Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.
    Indian Dermatol Online J 2017 Sep-Oct;8(5):352-354
    Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed ingene. Read More

    Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.
    Cardiovasc Pathol 2017 Nov - Dec;31:34-40. Epub 2017 Jul 27.
    Emory University School of Medicine, Department of Pediatric Pathology, Atlanta, GA, USA. Electronic address:
    The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. Read More

    Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
    Eur J Med Genet 2017 Dec 12;60(12):635-638. Epub 2017 Aug 12.
    Department of Medical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
    Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. Read More

    Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.
    Eur J Paediatr Neurol 2017 Nov 18;21(6):912-920. Epub 2017 Jul 18.
    University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, The Netherlands. Electronic address:
    The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor developmental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients. Read More

    RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION.
    Georgian Med News 2017 Jun(267):17-19
    Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany.
    Cutis laxa is a disease of premature ageing. While the congenital type is characterized by mutations of genes involved in extracellular matrix turnover, acquired cutis laxa is a rare disease that can be induced by a variety of exogenous factors. We present a case of acquired type 2 cutis laxa of the neck due to excessive exposure to natural sunlight and a type 1 facial acquired cutis laxa, both significantly improved by minor invasive procedures. Read More

    Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.
    World J Pediatr Congenit Heart Surg 2017 Jan 1:2150135117698458. Epub 2017 Jan 1.
    4 Genetic Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
    Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to the rare and often lethal genetic disorder, cutis laxa. Initial thoracic aortic aneurysm gene panel was negative. Read More

    Amino acid synthesis deficiencies.
    J Inherit Metab Dis 2017 Jul 26;40(4):609-620. Epub 2017 Jun 26.
    Paediatrician for Inborn Errors of Metabolism, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.
    In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids. Read More

    Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
    Sci Adv 2017 May 3;3(5):e1602532. Epub 2017 May 3.
    Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
    Homozygous or compound heterozygous mutations in fibulin-4 () lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. We sought to determine the consequences of a human disease-causing mutation in(E57K) on the cardiovascular system and vascular elastic fibers in a mouse model of ARCL1B.mice were hypertensive and developed arterial elongation, tortuosity, and ascending aortic aneurysms. Read More

    Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.
    J Dermatol Sci 2017 Oct 29;88(1):141-143. Epub 2017 Apr 29.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

    Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
    J Inherit Metab Dis 2017 Sep 13;40(5):745-747. Epub 2017 Apr 13.
    Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.
    Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine. Read More

    A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
    Clin Dysmorphol 2017 Jul;26(3):142-147
    aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
    Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Read More

    Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
    Int J Mol Sci 2017 Mar 15;18(3). Epub 2017 Mar 15.
    Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland 9102-6500, The Netherlands.
    Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Read More

    Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1.
    J Biol Chem 2017 04 3;292(17):7233-7243. Epub 2017 Mar 3.
    From the Departments of Chemistry and
    Pyrroline-5-carboxylate reductase (PYCR) is the final enzyme in proline biosynthesis, catalyzing the NAD(P)H-dependent reduction of Δ-pyrroline-5-carboxylate (P5C) to proline. Mutations in thegene alter mitochondrial function and cause the connective tissue disorder cutis laxa. Furthermore, PYCR1 is overexpressed in multiple cancers, and theknock-out suppresses tumorigenic growth, suggesting that PYCR1 is a potential cancer target. Read More

    Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association.
    Clin Exp Dermatol 2017 Mar 1. Epub 2017 Mar 1.
    Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
    It is well known that primary systemic amyloidosis [light chain (AL) amyloidosis] is associated with hidden dyscrasia or multiple myeloma. Acquired cutis laxa (cutis laxa acquisita; CLA) has also been described in patients with plasma cell dyscrasias, including multiple myeloma. We report a case in which haemorrhagic oral bullae were the first sign of an undiagnosed primary systemic amyloidosis related to multiple myeloma IgG-λ and previously diagnosed CLA. Read More

    Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
    Mol Syndromol 2017 Jan 17;8(1):30-35. Epub 2016 Nov 17.
    Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.
    Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31. Read More

    Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
    J Hum Genet 2017 Jun 23;62(6):661-663. Epub 2017 Feb 23.
    Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
    De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. Read More

    Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.
    Biomed Res Int 2017 18;2017:4184106. Epub 2017 Jan 18.
    Laboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, China.
    Pyrroline-5-carboxylate reductase (P5CR1) is a universal housekeeping enzyme that catalyzes the reduction of Δ1-pyrroline-5-carboxylate (P5C) to proline with concomitant oxidation of NAD(P)H to NAD(P). The enzymatic cycle between P5C and proline is important for function in amino acid metabolism, apoptosis, and intracellular redox potential balance in mitochondria. Autosomal recessive cutis laxa (ARCL) results from a mutation in P5CR1 encoded by PYCR1. Read More

    GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
    Int J Mol Sci 2017 Jan 25;18(2). Epub 2017 Jan 25.
    Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium.
    Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encodinggene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. Read More

    Effect of the R119G mutation on human P5CR structure and its interactions with NAD: Insights derived from molecular dynamics simulation and free energy analysis.
    Comput Biol Chem 2017 Apr 5;67:141-149. Epub 2017 Jan 5.
    Laboratory of Molecular Cardiology, Department of Cardiology,The First Affiliated Hospital of Kunming Medical University, Kunming, PR China. Electronic address:
    Pyrroline-5-carboxylate reductase (P5CR), an enzyme with conserved housekeeping roles, is involved in the etiology of cutis laxa. While previous work has shown that the R119G point mutation in the P5CR protein is involved, the structural mechanism behind the pathology remains to be elucidated. In order to probe the role of the R119G mutation in cutis laxa, we performed molecular dynamics (MD) simulations, essential dynamics (ED) analysis, and Molecular mechanics Poisson-Boltzmann surface area (MM-PBSA) binding free energy calculations on wild type (WT) and mutant P5CR-NAD complex. Read More

    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
    Am J Hum Genet 2017 Feb 5;100(2):216-227. Epub 2017 Jan 5.
    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address:
    Defects of the V-type proton (H) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the E1 and A subunits, respectively, of the Vdomain of the heteromultimeric V-ATPase complex. Structural modeling indicated that all substitutions affect critical residues and inter- or intrasubunit interactions. Read More

    Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.
    J Peripher Nerv Syst 2017 Mar;22(1):59-63
    Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
    We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Read More

    Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis.
    Amyloid 2016 Dec 23;23(4):225-233. Epub 2016 Nov 23.
    c Department of Pathology , University of Helsinki and HUSLAB , Helsinki , Finland.
    Background: Patients with hereditary gelsolin (AGel) amyloidosis (HGA) present with hanging skin (cutis laxa) and bilateral cranial neuropathy, and require symptomatic plastic surgery. Our clinical observation of tissue fragility prompted us to design a prospective study.

    Methods: Twenty-nine patients with HGA undergoing surgery were interviewed and clinically examined. Read More

    Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.
    Cell Stress Chaperones 2017 Jan 28;22(1):77-85. Epub 2016 Oct 28.
    Pain Center, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara City, Chiba, 299-0111, Japan.
    Most human neurodegenerative diseases are sporadic and appear later in life. Aging and neurodegeneration are closely associated, and recent investigations reveal that endoplasmic reticulum (ER) stress is involved in the progression of these features. Immunoglobulin heavy chain-binding protein (BiP) is an ER chaperone that is central to ER functions. Read More

    In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.
    J Biomol Struct Dyn 2017 Aug 27;35(11):2441-2453. Epub 2016 Sep 27.
    a Laboratory of Molecular Cardiology, Department of Cardiology , The First Affiliated Hospital of Kunming Medical University , Kunming , P.R. China.
    Pyrroline-5-carboxylate reductase (P5CR) encoded by PYCR1 gene is a housekeeping enzyme that catalyzes the reduction of P5C to proline using NAD(P)H as the cofactor. In this study, we used in silico approaches to examine the role of nonsynonymous single-nucleotide polymorphisms in the PYCR1 gene and their putative functions in the pathogenesis of Cutis Laxa. Among the 348 identified SNPs, 15 were predicted to be potentially damaging by both SIFT and PolyPhen tools; of them two SNP-derived mutations, R119G and G206W, have been previously reported to correlate with Cutis Laxa. Read More

    Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
    Neurogenetics 2016 10 8;17(4):251-257. Epub 2016 Sep 8.
    Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.
    Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). Read More

    Assessment of the Abbreviated National Eye Institute Visual Function Questionnaire (NEI VFQ 9) in blepharoptosis and dermatochalasis.
    Arq Bras Oftalmol 2016 Jul-Aug;79(4):226-8
    Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.
    Purpose: To evaluate the Abbreviated National Eye Institute Visual Function Questionnaire (NEI VFQ 9), which is shorter than those previously published, as a tool for assessing vision-related quality of life in patients with ptosis and dermatochalasis.

    Methods: This is a cohort study of 46 patients who underwent blepharoptosis and/or upper eyelid blepharoplasty surgery by a single surgeon (CN) in 2013 in a public, academic, ambulatory care referral center. Patients included 29 who underwent blepharoplasty, 11 who underwent ptosis surgery, and 6 who underwent combined surgery. Read More

    Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine.
    Dermatol Online J 2016 May 15;22(5). Epub 2016 May 15.
    University of California, San Diego School of Medicine.
    Penicillamine-induced skin changes are rare and include: hypersensitivity reactions, autoimmune reactions, and cutaneous elastoses. We report a case of a 73-year-old man with cystinuria taking penicillamine for over 50 years who presented with penicillamine-induced cutis laxa and milia en plaque. A brief review of penicillamine induced skin changes, specifically cutis laxa and milia en plaque, is presented. Read More

    A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
    J Hum Genet 2017 Feb 8;62(2):325-328. Epub 2016 Sep 8.
    Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.
    Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. Read More

    Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
    Pediatr Dermatol 2016 Nov 7;33(6):e351-e352. Epub 2016 Sep 7.
    Department of Dermatology, Dijon University Hospital, Dijon, France.
    We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes. Read More

    Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.
    Dis Model Mech 2016 11 1;9(11):1367-1374. Epub 2016 Sep 1.
    Center for Experimental Medicine, Medical Faculty, University of Cologne, 50931 Cologne, Germany
    LTBP-4L and LTBP-4S are two isoforms of the extracellular matrix protein latent-transforming growth factor beta-binding protein 4 (LTBP-4). The mutational inactivation of both isoforms causes autosomal recessive cutis laxa type 1C (ARCL1C) in humans and an ARCL1C-like phenotype in Ltbp4mice, both characterized by high postnatal mortality and severely affected elastogenesis. However, genetic data in mice suggest isoform-specific functions for Ltbp-4 because Ltbp4Smice, solely expressing Ltbp-4L, survive to adulthood. Read More

    The effect of upper eyelid blepharoplasty on eyelid and brow position.
    Orbit 2016 Dec 25;35(6):324-327. Epub 2016 Aug 25.
    e Jules Stein Eye Institute and Department of Ophthalmology, Division of Orbital and Ophthalmic Plastic Surgery , David Geffen School of Medicine, University of California-Los Angeles , Los Angeles , California , USA.
    This article evaluates the effect of upper eyelid blepharoplasty on eyelid margin position and brow height. This study is a retrospective analysis of patients who underwent upper eyelid blepharoplasty without concurrent blepharoptosis repair or brow surgery. The medical records of the participants were retrospectively reviewed and an established image analysis software was used to quantify the upper margin reflex distance (MRD1) as well as brow height using high quality standardized clinical photographs. Read More

    Monoclonal gammopathy of cutaneous significance: review of a relevant concept.
    J Eur Acad Dermatol Venereol 2017 Jan 8;31(1):45-52. Epub 2016 Aug 8.
    Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
    Some dermatologic entities are strongly associated with the presence of a monoclonal gammopathy. They should be referred to as monoclonal gammopathy of cutaneous significance (MGCS). A short review of the main entities that fit into the spectrum of MGCS is provided. Read More

    Methylation of LOXL1 Promoter by DNMT3A in Aged Human Skin Fibroblasts.
    Rejuvenation Res 2017 Apr 11;20(2):103-110. Epub 2016 Aug 11.
    1 Laboratory of Tissue Biology and Therapeutic Engineering, UMR5305, CNRS, University Claude Bernard , Lyon, France .
    Lysyl oxidase-like 1 (LOXL1) is an amino-oxidase involved in maturation of elastic fibers. Its downregulation has been associated with elastic fibers repair loss in aging aorta, lung, ligament, and skin. Several evidences of LOXL1 epigenetic silencing by promoter methylation were reported in cancer and cutis laxa syndrome. Read More

    1 OF 19