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Linear IgA bullous dermatosis-a fifty year experience of Warsaw Center of bullous diseases.
Front Immunol
January 2025
Department of Immunodermatology, National Medical Institute of the Ministry of the Interior and Administration, Warsaw, Masovian, Poland.
Linear IgA bullous dermatosis (LABD) is a rare subepidermal blistering disorder characterized by the presence of linear IgA deposits at the basement membrane zone (BMZ) by direct immunofluorescence (DIF). This entity was first described by Chorzelski and Jablonska from Warsaw Center of Bullous Diseases, Poland. The disease affects children and adults, whereby they differ in terms of clinical picture and course.
View Article and Find Full Text PDFLessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
Int Med Case Rep J
May 2024
Department of Gynecology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.
Objective: We report a case of Carmi Syndrome in a neonate.
Aim: To share our lessons in diagnosis of the case of Carmi Syndrome.
Case Report: Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients.
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.
An Bras Dermatol
April 2024
Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculty of Medicine, Universidade de São Paulo, São Paulo, SP, Brazil.
Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involves a skin biopsy. Most recently, whole exome sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families.
View Article and Find Full Text PDFDifferential diagnosis of stage 2, 3 and 4 pressure injuries of the pelvis and lower extremity: a case series.
J Wound Care
September 2023
University of Toledo, College of Medicine and Life Science, Department of Surgery, Toledo, Ohio, US.
Constant, unrelieved pressure of local tissue, particularly over bony prominences, may provoke damage that progresses to necrosis and pressure injury (PI). Differentiating PIs from conditions of similar appearance is imperative to minimising complications and implementing prompt treatment. This case series describes several conditions that may be mistaken for a PI.
View Article and Find Full Text PDFMisdiagnosis in Epidermolysis Bullosa: Yet Another Burden on Patients and their Families.
Actas Dermosifiliogr
October 2023
Department of Pediatric Dermatology, La Paz Children's Hospital, Madrid, España.
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