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Cutis laxa

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https://www.readbyqxmd.com/read/29441298/acquired-cutis-laxa-associated-with-light-and-heavy-chain-deposition-disease
#1
Reena A Majithia, Leni George, Meera Thomas, N A Fouzia
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. Skin is the next common organ to be affected by HCDD, which presents as ACL. We report the case of a 40-year-old male who presented with ACL associated with LHCDD...
January 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29430126/incidental-detection-of-bilateral-large-urinary-bladder-diverticulae-on-tc99m-ethylene-dicysteine-renography-with-single-photon-emission-computed-tomography-computed-tomography
#2
Ashwin Singh Parihar, Shelvin Kumar Vadi, Prema Menon, Bhagwant Rai Mittal, Anish Bhattacharya
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...
January 2018: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29419872/-clinical-and-genetic-analysis-of-a-patient-with-cutis-laxa
#3
Pingping Zhang, Xin Wang, Zhijie Gao, Xiaoyan Liu, Qian Chen
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. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29396028/cutis-laxa-exocrine-pancreatic-insufficiency-and-altered-cellular-metabolomics-as-additional-symptoms-in-a-new-patient-with-atp6ap1-cdg
#4
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G Christoph Korenke, Christian Thiel
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. Whole exome sequencing identified the novel hemizygous mutation c.542T>G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H+-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures...
January 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29362193/ascending-aortic-aneurysm-in-a-child-with-fibulin-4-deficiency
#5
Makoto Hibino, Yoshimasa Sakai, Wataru Kato, Keisuke Tanaka, Kazuyoshi Tajima, Takehiko Yokoyama, Mitsuji Iwasa, Hiroko Morisaki, Toyonori Tsuzuki, Akihiko Usui
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.
February 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#6
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
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...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29329127/cutis-laxa-acquisita-after-urticarial-vasculitis-in-sle-patients
#7
Kimberly B Golisch, Silvija P Gottesman, Patricia Ferrer, Keliegh S Culpepper
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. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been linked to cutis laxa acquisita...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29311258/molecular-mechanisms-of-cutis-laxa-and-distal-renal-tubular-acidosis-causing-mutations-in-v-atpase-a-subunits-atp6v0a2-and-atp6v0a4
#8
Sally Esmail, Norbert Kartner, Yeqi Yao, Joo Wan Kim, Reinhart A F Reithmeier, Morris F Manolson
The a subunit 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, a1-a4, which may encode signals for targeting assembled V-ATPases to specific intracellular locations. Despite the functional importance of the a subunit, its structure remains controversial. By studying molecular mechanisms of human disease-causing missense mutations within a subunit isoforms, we may identify domains critical for V-ATPase targeting, activity and/or regulation...
January 8, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29311044/multiple-myeloma-presenting-with-acquired-cutis-laxa-and-primary-systemic-amyloidosis
#9
Min Young Lee, Ji Yeon Byun, You Won Choi, Hae Young Choi
No abstract text is available yet for this article.
December 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29148179/clinical-implications-of-de-barsy-syndrome
#10
Lindsay L Warner, David A Olsen, Hugh M Smith
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...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29127204/mutations-in-the-x-linked-atp6ap2-cause-a-glycosylation-disorder-with-autophagic-defects
#11
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M Maier, Yoshinao Wada, Stefanie Jäger, Nevan J Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D Bird, Wendy H Raskind, Michael Schwake, Sandrine Duvet, Francois Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons
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 that ATP6AP2 deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects...
November 10, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29123002/peritoneal-dialysis-catheter-removal-post-transplant-a-rare-case-of-delayed-bowel-perforation
#12
Andrew P Maxted, Brian Davies, Daniel Colliver, Alun Williams, Andrew Lunn
Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheters in situ post-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. Twenty-three weeks after dialysis was commenced, the patient underwent a renal transplant. Thirteen weeks post-transplant, the patient felt an unusual sensation after defecation...
November 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/29100093/de-novo-mutations-in-slc25a24-cause-a-craniosynostosis-syndrome-with-hypertrichosis-progeroid-appearance-and-mitochondrial-dysfunction
#13
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
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.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28979870/autosomal-recessive-cutis-laxa-type-ii-report-of-novel-mutation-in-a-child
#14
Rakesh Kumar, Sheetal Sharda, Vimlesh Soni, Kaniyappan Nambiyar
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 in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#15
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
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. The patient was a 14-year-old Japanese boy...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28757335/imaging-in-cutis-laxa-syndrome-caused-by-a-dominant-negative-aldh18a1-mutation-with-hypotheses-for-intracranial-vascular-tortuosity-and%C3%A2-wide-perivascular-spaces
#16
P F Sinnige, C M A van Ravenswaaij-Arts, P Caruso, A E Lin, M Boon, E Rahikkala, B Callewaert, L C Meiners
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. One patient had intracranial arterial and venous tortuosity, widened ventricular and extra-axial cerebrospinal fluid (CSF) spaces, wide perivascular spaces and increased T2 signal intensity in the cerebral white matter over time...
July 18, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28726647/results-of-minimal-invasive-treatment-in-localized-acquired-cutis-laxa-type-1-and-type-2-case-report-and-discussion
#17
U Wollina
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. The etiology, prevention and treatment options are discussed.
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28673110/valve-sparing-root-and-total-arch-replacement-for-cutis-laxa-aortopathy
#18
Anji T Yetman, James Hammel, Jennifer N Sanmann, Lois J Starr
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. Parents of the child were not known to be consanguineous, but high-density SNP array revealed several regions of homozygosity. This prompted targeted sequence analysis that identified a novel homozygous missense mutation in the gene for cutis laxa, EFEMP2...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#19
REVIEW
T J de Koning
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...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28508064/fibulin-4-is-essential-for-maintaining-arterial-wall-integrity-in-conduit-but-not-muscular-arteries
#20
Carmen M Halabi, Thomas J Broekelmann, Michelle Lin, Vivian S Lee, Mon-Li Chu, Robert P Mecham
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...
May 2017: Science Advances
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