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    926 results match your criteria Cutis Laxa Elastolysis

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    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 (FBLN4) 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 FBLN4 (E57K) on the cardiovascular system and vascular elastic fibers in a mouse model of ARCL1B. Fbln4(E57K/E57K) 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 Apr 29. 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 Apr 13. 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 Apr 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(1)-pyrroline-5-carboxylate (P5C) to proline. Mutations in the PYCR1 gene alter mitochondrial function and cause the connective tissue disorder cutis laxa. Furthermore, PYCR1 is overexpressed in multiple cancers, and the PYCR1 knock-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 encoding GGCX gene 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 V1 domain 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 2016 Sep 27:1-13. 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 Oct 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 Nov 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 Ltbp4(-/-) mice, both characterized by high postnatal mortality and severely affected elastogenesis. However, genetic data in mice suggest isoform-specific functions for Ltbp-4 because Ltbp4S(-/-) mice, 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

    Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
    Matrix Biol 2016 Dec 23;56:132-149. Epub 2016 Jun 23.
    Department of Experimental Medicine I, Nikolaus-Fiebiger Center of Molecular Medicine, University of Erlangen-Nürnberg, 91054 Erlangen, Germany.
    Fibulin-4 is a 60kDa calcium binding glycoprotein that has an important role in development and integrity of extracellular matrices. It interacts with elastin, fibrillin-1 and collagen IV as well as with lysyl oxidases and is involved in elastogenesis and cross-link formation. To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. Read More

    Acquired Localized Cutis Laxa due to Increased Elastin Turnover.
    Case Rep Dermatol 2016 Jan-Apr;8(1):42-51. Epub 2016 Feb 13.
    Department of Dermatology, Roskilde Hospital, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
    Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Read More

    RIN2 syndrome: Expanding the clinical phenotype.
    Am J Med Genet A 2016 Sep 8;170(9):2408-15. Epub 2016 Jun 8.
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
    Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the expansion of the clinical phenotype in additional families, it was subsequently coined RIN2 syndrome. Hallmark features of this condition include dysmorphic facial features with striking, progressive facial coarsening, sparse hair, normal to enlarged occipitofrontal circumference, soft redundant and/or hyperextensible skin, and scoliosis. Read More

    Vesicoureteral reflux and the extracellular matrix connection.
    Pediatr Nephrol 2017 Apr 2;32(4):565-576. Epub 2016 May 2.
    Department of Human Genetics, McGill University, Montreal, QC, Canada.
    Primary vesicoureteral reflux (VUR) is a common pediatric condition due to a developmental defect in the ureterovesical junction. The prevalence of VUR among individuals with connective tissue disorders, as well as the importance of the ureter and bladder wall musculature for the anti-reflux mechanism, suggest that defects in the extracellular matrix (ECM) within the ureterovesical junction may result in VUR. This review will discuss the function of the smooth muscle and its supporting ECM microenvironment with respect to VUR, and explore the association of VUR with mutations in ECM-related genes. Read More

    Generalized acquired cutis laxa type 1: a case report and brief review of literature.
    Dermatol Online J 2016 Mar 16;22(3). Epub 2016 Mar 16.
    Katihar Medical College, Bihar.
    Cutis laxa, clinically characterized by loose and pendulous skin related to loss of elastic tissue, is a rare heterogeneous condition. It is classified into congenital and acquired types. We report a case of generalized acquired cutis laxa type 1 in a young man following pruritic urticarial plaques. Read More

    N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
    JIMD Rep 2017 30;31:73-77. Epub 2016 Apr 30.
    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
    Transaldolase deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway that presents clinically with infantile-onset hepatopathy progressing to cirrhosis, nephropathy, connective tissue abnormalities resembling cutis laxa, coagulopathy, cytopenias, and increased risk of hepatocellular carcinoma. In many cases, death occurs in infancy or early childhood. There is no established treatment for transaldolase deficiency in humans. Read More

    Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.
    Am J Med Genet A 2016 Jul 15;170(7):1924-7. Epub 2016 Apr 15.
    Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Sporadic and familial elastin mutations can occur in large vessel stenosis such as supravalvular aortic stenosis and narrowing of the descending aorta. However, there are very few reports regarding the arteriopathy of cerebral, pulmonary or abdominal arteries in elastin mutations. We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. Read More

    [Subsequent therapy for infantile hemangiomas after discontinuation of oral propranolol].
    Shanghai Kou Qiang Yi Xue 2015 Dec;24(6):716-20
    Department of Hemangiomas, Linyi Tumor Hospital. Linyi 276001,China.
    Purpose: To summarize the subsequent therapy experiences for infantile hemangiomas after discontinuation of oral propranolol treatment, and explore the relationships between clinical interventions and types of infantile hemangioma.

    Methods: In this retrospective study from January 2010 to May 2014, a total of 137 infants with hemangiomas undergoing sequential therapy after oral propranolol treatment. There were 41 males and 96 females. Read More

    Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association.
    Indian Dermatol Online J 2016 Mar-Apr;7(2):103-6
    Department of Dermatology, Venereology and Leprosy, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India.
    Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature. Read More

    Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
    Hum Genet 2016 May 29;135(5):525-40. Epub 2016 Mar 29.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit these historical subtypes exist. The aim of this study is to describe a large series of patients with inherited connective tissue disorders evaluated by our clinical genetics service and for whom a likely causal variant was identified. Read More

    A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.
    Indian J Dermatol 2016 Jan-Feb;61(1):81-4
    Department of Pediatric Medicine, R. G. Kar Medical College, Kolkata, West Bengal, India.
    De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India. Read More

    [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
    Ann Dermatol Venereol 2016 Apr 2;143(4):279-83. Epub 2016 Mar 2.
    Clinique dermatologique, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
    Background: Pseudoxanthoma elasticum (PXE)-like syndrome is characterized by the association of PXE and cutis laxa (CL) features with a deficiency of vitamin K-dependent clotting factors. It was first described in 1971 and was identified as a distinct genetic entity in 2007 with analysis of the GGCX (γ-glutamyl carboxylase) gene, which is involved in congenital deficiency in vitamin K-dependent clotting factors. Here we report a new case of this extremely rare syndrome. Read More

    The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.
    Ann Lab Med 2016 May;36(3):259-62
    Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea.
    Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. Read More

    ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
    Brain Dev 2016 Aug 29;38(7):678-84. Epub 2016 Jan 29.
    Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.
    Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Read More

    Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.
    Cell Tissue Res 2016 Jun 28;364(3):637-46. Epub 2015 Dec 28.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107, USA.
    Fibulin-4 is an extracellular matrix glycoprotein essential for elastic fiber formation. Mice deficient in fibulin-4 die perinatally because of severe pulmonary and vascular defects associated with the lack of intact elastic fibers. Patients with fibulin-4 mutations demonstrate similar defects, and a significant number die shortly after birth or in early childhood from cardiopulmonary failure. Read More

    Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.
    Matrix Biol 2016 Mar 9;50:53-66. Epub 2015 Dec 9.
    Department of Experimental Medicine I, Nikolaus-Fiebiger Center of Molecular Medicine, University of Erlangen-Nürnberg, 91054 Erlangen, Germany.
    The extracellular matrix protein fibulin-4 has been shown to be indispensable for elastic fiber assembly, but there is also evidence from human mutations that it is involved in controlling skeletal development and bone stability. Fibulin-4 mutations were identified in patients suffering from vascular abnormality and/or cutis laxa, and some of these patients exhibited bone fragility, arachnodactyly and joint laxity. In order to elucidate the role of fibulin-4 in bone structure and skeletal development, we analyzed structural changes in skeletal tissues of Fbln4(-/-) mice. Read More

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