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Updates on Pityriasis Rubra Pilaris: A Scoping Review.
J Cutan Med Surg
April 2024
Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON, Canada.
Pityriasis rubra pilaris (PRP) is a rare, inflammatory papulosquamous skin disease with unknown exact etiology. Historically, PRP has been challenging to diagnose, especially during the acute phase, and to treat, due to its unclear pathogenesis. To better inform clinical practice, a literature review was conducted employing a broad search strategy to capture PRP-related published studies between January 1, 2012 to October 31, 2022.
View Article and Find Full Text PDFPityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.
Am J Clin Dermatol
March 2024
Department of Dermatology, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Pityriasis rubra pilaris (PRP) is a rare papulosquamous reaction pattern with a significant impact on quality of life. Type I PRP is the most common PRP variant, presenting as erythematous papules emerging in a follicular distribution and later coalescing into plaques with characteristic islands of sparing; histologically, an alternating pattern of orthokeratosis and parakeratosis is considered the hallmark of PRP (checkerboard hyperkeratosis). Other PRP variants (types II-V) differ in their age of onset and clinical presentation.
View Article and Find Full Text PDFCARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.
Pediatr Dermatol
September 2021
Department of Dermatology, Hospital Alemán, Buenos Aires, Argentina.
CARD14-associated papulosquamous eruption (CAPE) is a proposed term that encompasses features ranging from psoriasis to pityriasis rubra pilaris (PRP) in association with CARD14 mutations. The early onset of the disease, prominent facial involvement, family history of an autosomal dominant trait, and poor response to conventional treatment are characteristics of CAPE that distinguish it from classical psoriasis and PRP. We describe the clinical features, family history, and response to therapy in three unrelated children with CAPE and compare these characteristics with those of previously described pediatric patients.
View Article and Find Full Text PDFAltered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.
Am J Hum Genet
June 2021
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan. Electronic address:
Revertant mosaicism, or "natural gene therapy," refers to the spontaneous in vivo reversion of an inherited mutation in a somatic cell. Only approximately 50 human genetic disorders exhibit revertant mosaicism, implicating a distinctive role played by mutant proteins in somatic correction of a pathogenic germline mutation. However, the process by which mutant proteins induce somatic genetic reversion in these diseases remains unknown.
View Article and Find Full Text PDFCARD14-mutations in pityriasis rubra pilaris and therapeutic response to ustekinumab - a hypothesis.
J Dtsch Dermatol Ges
November 2020
Department of Dermatology, Donauspital - SMZ Ost, Vienna, Austria.
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