Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by pathogenic variants in COL7A1.
Objectives: To determine the association between different COL7A1 variants and clinical disease severity in 236 North American patients with RDEB.
Methods: Published reports or in silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
Central line dressings (CLDs) may be associated with adverse skin reactions in hospitalized children. Currently, standardized protocols to guide the management of cutaneous CLD reactions are unavailable at our children's hospital and in the pediatric literature. We surveyed dermatologists at multiple institutions who routinely perform pediatric consults to assess their management practices and/or the use of standardized protocols for addressing adverse cutaneous reactions to CLDs.
View Article and Find Full Text PDFPediatr Dermatol
November 2024
J Am Acad Dermatol
December 2024
Pediatr Dermatol
March 2024
The video app TikTok, a controversial platform, has increasingly been utilized for the dissemination of health-related topics. In this study, the quality of information on the top 50 most viewed TikTok videos on infantile hemangiomas (IHs) labeled #hemangioma was analyzed. The results showed that the videos were skewed toward more severe subtypes of IH, and most were directed at raising awareness about IH or combating stigmatizing attitudes toward birthmarks.
View Article and Find Full Text PDFPediatr Dermatol
November 2023
Pediatr Dermatol
November 2023
Background/objectives: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g.
View Article and Find Full Text PDFPediatr Dermatol
January 2023
Introduction: Paraneoplastic pemphigus (PNP) is a rare, often fatal, autoimmune blistering disease of the skin and mucous membranes. In children, PNP is frequently associated with Castleman disease (CD). This series describes five cases of PNP associated with CD.
View Article and Find Full Text PDFPediatr Dermatol
January 2023
Pediatr Dermatol
September 2022
"How to" skin care manuals assist health care professionals caring for hospitalized patients with epidermolysis bullosa and other disorders. Manuals created by Epidermolysis Bullosa Clinical Research Consortium sites were collected and analyzed. Analysis of manuals revealed variable content.
View Article and Find Full Text PDFThis article reviews the clinical findings of epidermal nevi and their associated syndromes and provides an update on their pathogenic genetic changes as well as targeted therapies detailed to date.
View Article and Find Full Text PDFClin Dermatol
August 2021
As of May 2020, an emerging immune-mediated syndrome primarily affecting children has been detected primarily in Europe and the United States. The incidence of this syndrome appears to mirror the initial infectious assault with a delay of several weeks. This syndrome has been termed "multisystem inflammatory syndrome in children" (MIS-C) and is observed in association with the coronavirus disease 2019.
View Article and Find Full Text PDFAs of May 2020, an emerging immune-mediated syndrome mainly affecting children has been detected primarily in Europe and the United States. The incidence of this syndrome appears to mirror the initial infectious assault, with a delay of several weeks. This syndrome has been termed "multisystem inflammatory syndrome in children" (MIS-C) and is observed in association with the coronavirus disease 2019 (COVID-19).
View Article and Find Full Text PDFPediatr Crit Care Med
March 2021
J Am Acad Dermatol
March 2021