Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Bibliographic Details
Main Authors:	Manthoula Valari, Martha Theodoraki, Ierotheos Loukas, Sylvia Gkantseva-Patsoura, Georgia Karavana, Vasiliki Falaina, Lilia Lykopoulou, Roser Pons, Ioannis Athanasiou, Katarzyna Wertheim-Tysarowska, Christina Kanaka-Gantenbein, Dimitra Kiritsi
Format:	Article
Language:	English
Published:	Society for Publication of Acta Dermato-Venereologica 2019-10-01
Series:	Acta Dermato-Venereologica
Subjects:	epidermolysis bullosa plectin intermediate filaments skin blistering
Online Access:	https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3317

Similar Items

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
by: Wei-Ting Tu, et al.
Published: (2020-08-01)

Dystrophic epidermolysis bullosa in a child
by: Uma Eswara
Published: (2012-01-01)

Inherited epidermolysis bullosa: A multisystem disease of skin and mucosae fragility
by: Guadalupe Maldonado-Colin, et al.
Published: (2017-01-01)

Epidermolysis bullosa: A series of 12 patients in Kashmir valley
by: Qayoom Seema, et al.
Published: (2010-01-01)

Epidermolysis bullosa dystrophica inversa: A case report
by: Enver Turan, et al.
Published: (2012-09-01)

Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease
by: Blake R. C. Smith, et al.
Published: (2021-06-01)

An 81-Year-Old Woman with Recalcitrant Blisters
by: Daniel C. Butler
Published: (2018-01-01)

A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis
by: Erika Sawka, BS, et al.
Published: (2021-01-01)

Identifying Plectin Isoform Functions through Animal Models
by: Maria J. Castañón, et al.
Published: (2021-09-01)

Ocular involvement in a case of dystrophic epidermolysis bullosa with conjunctival blistering without eyelid or corneal disease: A rare case report
by: Shyam Sundar Das Mohapatra, et al.
Published: (2021-01-01)

Pyloric atresia: A report of ten patients
by: Amine Ksia, et al.
Published: (2013-01-01)

A case of a patient with severe epidermolysis bullosa surviving to adulthood
by: Hubail AR, et al.
Published: (2018-11-01)

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa
by: Julia Hoffmann, et al.
Published: (2019-02-01)

Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita
by: Zlatko Kopecki, et al.
Published: (2016-07-01)

A comparison study of outcome measures for epidermolysis bullosa: Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB)Capsule Summary
by: Clare L. Rogers, BSc Med (Hons), et al.
Published: (2021-03-01)

The analysis of echocardiographic results in patients suffering from epidermolysis bullosa
by: Katarzyna Kurnicka, et al.
Published: (2021-01-01)

Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association
by: Pradyumna Pan
Published: (2021-01-01)

Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional
by: R. Maseda Pedrero, et al.
Published: (2021-10-01)

Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn
by: Mahdi Ben Dhaou, et al.
Published: (2015-10-01)

Epidermolysis Bullosa in Newborn: A Rare Case with Management Dilemmas
by: Ekta Kale, et al.
Published: (2020-01-01)

Epidermolysis bullosa pruriginosa
by: Puri Suruchi, et al.
Published: (2005-01-01)

Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment
by: Kristine A.U. Pallesen, et al.
Published: (2019-09-01)

A Review of Acquired Autoimmune Blistering Diseases in Inherited Epidermolysis Bullosa: Implications for the Future of Gene Therapy
by: Payal M. Patel, et al.
Published: (2021-05-01)

How to Deal with Skin Biopsy in an Infant with Blisters?
by: Stéphanie Leclerc-Mercier
Published: (2021-06-01)

Epidermolysis bullosa pruriginosa a clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family
by: Manisha Nijhawan, et al.
Published: (2017-07-01)

Epidermolysis bullosa in practice of dermatologist
by: Shustova О.А., et al.
Published: (2014-09-01)

Laryngeal stenosis associated with epidermolysis bullosa simplex
by: Cécile Devergne, MD, et al.
Published: (2020-05-01)

Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa
by: Susanna Esposito, et al.
Published: (2016-09-01)

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases
by: Jemima E. Mellerio, et al.
Published: (2020-06-01)

Congenital Pyloric Atresia and Associated Anomalies: A Case Series
by: Rahul Gupta, et al.
Published: (2013-09-01)

Inherited epidermolysis bullosa: clinical and therapeutic aspects Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos
by: Vanessa Lys Simas Yamakawa Boeira, et al.
Published: (2013-04-01)

Epidermólise bolhosa adquirida inflamatória: relato de caso Inflammatory epidermolysis bullosa acquisita: case report
by: Marcelo D'Ambrosio Fernandes, et al.
Published: (2009-04-01)

Collagen XVII and pathomechanisms of junctional epidermolysis bullosa and gestational pemphigoid
by: Huilaja, L. (Laura)
Published: (2008)

Epidermolysis bullosa pruriginosa: A report of two cases
by: Varadraj Vasant Pai, et al.
Published: (2014-01-01)

The psychological impact of skin disorders on children and their families
by: Titman, Penelope Susan
Published: (2001)

Vulvar involvement in epidermolysis bullosa: Case series
by: Julie Dang, MD, et al.
Published: (2021-11-01)

Three familial cases of Pasini variant of dominant dystrophic epidermolysis
by: Seirafi H, et al.
Published: (1999-07-01)

Utility of Immunofluorescence Antigen Mapping in Hereditary Epidermolysis Bullosa
by: Raghavendra Rao, et al.
Published: (2021-01-01)

Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases
by: Yu. Yu. Kotalevskaya, et al.
Published: (2019-02-01)

Therapy of patients with congenital epidermolysis bullosa using modern non-adherent wound dressings
by: A. A. Kubanov, et al.
Published: (2019-05-01)

Cannot write session to /tmp/vufind_sessions/sess_c7s3k1k6n01cm62e20tjas4iv2