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Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.
Glob Med Genet
December 2024
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, United States.
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p.
View Article and Find Full Text PDFClinical Features of Paediatric Inflammatory Epidermolysis Bullosa Acquisita: A Case Series Study.
Acta Derm Venereol
January 2024
Department of Dermatology, Peking University First Hospital, Beijing, China; National Clinical Research Center for Skin and Immune Diseases, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Article Synopsis
- The study focuses on epidermolysis bullosa acquisita (EBA), a rare autoimmune skin condition that occurs infrequently in children, examining 7 pediatric patients aged 16 and under.
- All patients showed inflammatory EBA, with some displaying symptoms similar to bullous pemphigoid, and unique histopathological features such as specific neutrophil distributions.
- Treatment involved glucocorticoids and other medications like dapsone, thalidomide, and sulfasalazine, all of which were effective, but relapses often happened when glucocorticoid dosages were reduced or stopped, indicating a need for tailored treatment and follow-up for children with this condition.
Acquired epidermolysis bullosa in a pediatric patient.
Bol Med Hosp Infant Mex
October 2023
Instituto Nacional de Salud del Niño San Borja. Lima, Perú.
Article Synopsis
- Acquired epidermolysis bullosa is a rare autoimmune skin condition that affects children, characterized by autoantibodies against type VII collagen.
- A 12-year-old girl with bullous skin lesions was diagnosed through histopathological and immunofluorescence studies confirming the disease.
- Treatment with corticosteroids and dapsone showed positive results, highlighting the importance of early diagnosis and timely intervention to prevent lasting damage.
Dystrophic Epidermolysis Bullosa in a Preschooler in a Middle Eastern Country.
Glob Pediatr Health
February 2023
Department of Maternal and Child Health, College of Nursing, Sultan Qaboos University, Al Khoudh, Muscat, Sultanate of Oman.
Epidermolysis Bullosa (EB) is a very rare genetic skin disorder associated with skin fragility. It results in blister formation on the skin. The purpose of this paper is to update the progress of a child with Dystrophic EB (DEB) who survived from infancy to preschool years and later died with recurrent skin blisters, bone marrow transplantation, and life support measures.
View Article and Find Full Text PDFPotential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Exp Dermatol
December 2022
Department of Dermatology, "Emek" Medical Center, Afula, Israel.
Inherited epidermolysis bullosa (EB) simplex is a heterogeneous group of skin fragility disorders caused by mutations in genes encoding cell-cell or cell-matrix adhesion proteins. A recently identified, rare subtype of EB simplex is due to bi-allelic mutations in the EXPH5 gene, which encodes exophilin5, an effector protein of the Rab27B GTPase involved in intracellular vesicle trafficking and exosome secretion. The EXPH5 EB subtype is characterized by early-onset skin blisters and scars, mainly on extremities, and varying degrees of pigmentary alterations.
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