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Sanne D'hondt, Tim Van Damme, Fransiska Malfait
PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes...
October 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sara Joller, Inês Berenguer Veiga, Cord Drögemüller
No abstract text is available yet for this article.
August 30, 2017: Animal Genetics
Ines Kapferer-Seebacher, Pernilla Lundberg, Franziska Malfait, Johannes Zschocke
AIM: Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Periodontal EDS (pEDS) is a specific EDS subtype caused by heterozygous mutations in complement 1 subunit genes C1R and C1S, with early severe periodontitis as predominant clinical feature. We aimed to systematically assess the spectrum of periodontal abnormalities in all EDS subtypes. MATERIALS AND METHODS: An electronic and manual search was conducted in three databases (Medline, LIVIVO, CENTRAL)...
November 2017: Journal of Clinical Periodontology
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
Simonetta Rosato, Delfien Syx, Ivan Ivanovski, Marzia Pollazzon, Daniela Santodirocco, Loredana De Marco, Marina Beltrami, Bert Callewaert, Livia Garavelli, Fransiska Malfait
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...
September 2016: American Journal of Medical Genetics. Part A
Akshatha Desai, John J Connolly, Michael March, Cuiping Hou, Rosetta Chiavacci, Cecilia Kim, Gholson Lyon, Dexter Hadley, Hakon Hakonarson
BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family. METHODS: Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recently identified an EDS family that indicate an autosomal dominant inheritance...
February 16, 2016: BMC Musculoskeletal Disorders
Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, Koen Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
PURPOSE: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and laxity, excessive bruising, and sometimes major complications due to visceral and vascular fragility...
September 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Luis V Monteagudo, Luis M Ferrer, Elena Catalan-Insa, Demetris Savva, Liam J McGuffin, Maria T Tejedor
BACKGROUND: Dermatosparaxis (Ehlers-Danlos syndrome in humans) is characterized by extreme fragility of the skin. It is due to the lack of mature collagen caused by a failure in the enzymatic processing of procollagen I. We investigated the condition in a commercial sheep flock. HYPOTHESIS/OBJECTIVES: Mutations in the ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2) locus, are involved in the development of dermatosparaxis in humans, cattle and the dorper sheep breed; consequently, this locus was investigated in the flock...
February 2015: Veterinary Dermatology
Jaroslava Halper
Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for some years, not much progress has been made in our understanding of the biochemical basis and pathogenesis of these diseases in animals. Ehlers-Danlos syndrome described in dogs already in 1943 and later in cats affects mainly skin in these animals. The involved skin is thin and hyperextensible with easily inflicted injuries resulting in hemorrhagic wounds and atrophic scars...
2014: Advances in Experimental Medicine and Biology
Joyce Solomons, Paul Coucke, Sofie Symoens, Marta C Cohen, F Michael Pope, Bart E Wagner, Glenda Sobey, Rebecca Black, Deirdre Cilliers
Dermatosparaxis Ehlers-Danlos syndrome (or EDS VIIC), a rare autosomal recessive connective tissue disorder, is characterized by extreme skin fragility, premature rupture of membranes in pregnancy, and spontaneous rupture of internal organs. Here we report a second patient with EDS VIIC presenting with congenital skull fractures and skin lacerations at birth, complications which may occur more frequently than previously thought in this condition. We also discuss the role of prenatal diagnosis in the management of a subsequent normal pregnancy...
May 2013: American Journal of Medical Genetics. Part A
Ana Rosa Rincón-Sánchez, Irma Elia Arce, Enrique Alejandro Tostado-Rabago, Alberto Vargas, Luis Alfredo Padilla-Gómez, Alejandro Bolaños, Selenne Barrios-Guyot, Víctor Manuel Anguiano-Alvarez, Víctor Chistian Ledezma-Rodríguez, María Cristina Islas-Carbajal, Ana María Rivas-Estilla, Alfredo Feria-Velasco, Nory Omayra Dávalos
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts...
January 2012: Case Reports in Dermatology
H Zhou, J G H Hickford, Q Fang
We have used polymerase chain reaction-single-strand conformational polymorphism analysis to investigate variation in exon 2 of the ADAM metalloproteinase with thrombospondin type I motif, 2 (ADAMTS2) gene in 598 sheep, including three white Dorper lambs that had a pathology consistent with dermatosparaxis. Four sequence variants (A, B, C and D) were identified at this exon, with the lambs having the dermatosparaxis phenotype being uniquely B homozygous and their mothers being B-containing heterozygous for ADAMTS2...
August 2012: Animal Genetics
A De Paepe, F Malfait
The Ehlers-Danlos syndromes (EDSs) comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins...
July 2012: Clinical Genetics
B l Vaatstra, W D Halliday, S Waropastrakul
CASE HISTORY AND CLINICAL FINDINGS: Two White Dorper lambs from the North Island of New Zealand, 2 and 4 weeks of age, were presented with large skin flaps hanging from the flanks, separation of skin from the subcutis over mobile joints, and de-gloving injuries of the limbs and tail. The lambs were subject to euthanasia on humane grounds. PATHOLOGICAL FINDINGS: Large skin tears with associated haemorrhage, periarticular S/C oedema and generalised skin fragility were observed in both lambs at post-mortem examination...
September 2011: New Zealand Veterinary Journal
S Rüfenacht, R Straub, B Steinmann, N Winand, A Bidaut, M H Stoffel, V Gerber, M Wyder, E Müller, P J Roosje
Hereditary equine dermal asthenia (HERDA) is an autosomal recessive skin disease that affects predominantly Quarter Horses and related breeds. Typical symptoms are easy bruising and hyperextensible skin on the back. The prognosis is guarded, as affected horses cannot be ridden normally and are often euthanised. In the Quarter Horse, HERDA is associated with a mutation in cyclophilin B (PPIB), an enzyme involved in triple helix formation of collagen. Here we describe the case of a Swiss Warmblood filly with symptoms of HERDA without PPIB-mutation and in which we also could exclude Ehlers-Danlos syndrome Type IV, VI, VIIA, VIIB and VIIC (dermatosparaxis type) as etiological diseases...
April 2010: Schweizer Archiv Für Tierheilkunde
D E Holm, E van Wilpe, C K Harper, N M Duncan
Dermatosparaxis is a heritable collagen dysplasia causing skin extensibility and fragility. In Belgian Blue cattle this mutation has been described as a 3 base pair (bp) change followed by a 17bp deletion in the gene coding for procollagen 1 N-Proteinase (pNPI). An outbreak in a commercial Drakensberger herd in South Africa followed the introduction in late 2000 of a 3-year-old bull that developed skin lesions in 2001 and was culled in 2002. Some of his offspring were similarly affected, 1 of which was kept as a breeding bull after his sire's death...
March 2008: Journal of the South African Veterinary Association
Bert Callewaert, Fransiska Malfait, Bart Loeys, Anne De Paepe
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management. EDS are a heterogeneous group of conditions characterized by skin hyperextensibility, atrophic scarring, joint hypermobility and generalized tissue fragility. The current classification proposes six subtypes based on clinical, biochemical and molecular characteristics...
March 2008: Best Practice & Research. Clinical Rheumatology
Sylvia Proske, Wolfgang Hartschuh, Alexander Enk, Ingrid Hausser
BACKGROUND: The Ehlers-Danlos syndrome encompasses a group of hereditary disorders of the connective tissue, characterized by hyperextensible skin, joint hypermobility; and varying degrees of vessel and tissue fragility. The main forms are classical, hypermobile, vascular, kyphoscoliotic A/B, arthrochalasis A/B and dermatosparaxis types. PATIENTS AND METHODS: We report our experience in diagnosis and classification of Ehlers-Danlos-syndrome, especially with the combination of clinical and morphological criteria, at the Department of Dermatology of the University of Heidelberg with more than 600 patients between 1984 and 2004...
April 2006: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Carine Le Goff, Robert P T Somerville, Frederic Kesteloot, Kimerly Powell, David E Birk, Alain C Colige, Suneel S Apte
Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans. Not all collagen-rich tissues are affected to the same degree, which suggests compensation by the ADAMTS2 homologs ADAMTS3 and ADAMTS14. In situ hybridization of Adamts2, Adamts3 and Adamts14, and of the genes encoding the major fibrillar collagens, Col1a1, Col2a1 and Col3a1, during mouse embryogenesis, demonstrated distinct tissue-specific, overlapping expression patterns of the protease and substrate genes...
April 2006: Development
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