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An unusual cause of erythroderma.
Clin Exp Dermatol
December 2024
Department of Dermatology, National Skin Centre, Singapore.
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Bevacizumab-Induced Cutaneous Lupus Erythematosus in a Patient With Metastatic Colon Carcinoma: A Case Report.
Cureus
March 2024
Hematology and Medical Oncology, Allegheny Health Network, Pittsburgh, USA.
Article Synopsis
- Bevacizumab is a cancer treatment that works by inhibiting vascular epidermal growth factor and is associated with side effects like hypertension and bleeding.
- Rare skin reactions, such as exfoliative dermatitis, have been reported with this medication.
- A specific case is presented where a patient with metastatic colon cancer developed cutaneous lupus likely caused by bevacizumab, which started to improve after stopping chemotherapy, highlighting the importance of prompt medical attention.
Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report.
Cureus
March 2024
Dermatology, Salmaniya Medical Complex, Manama, BHR.
Netherton syndrome (NTS) is a genetic disorder that predominantly affects the hair and the skin, and it can have a wide variety of presentations. The genetic syndrome is more common with consanguineous parents. Given the rarity and varying presentation of the condition, a few cases have been reported in the literature.
View Article and Find Full Text PDFUpdated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Exp Dermatol
April 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Article Synopsis
- Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin condition caused by mutations in at least 12 genes, primarily ABCA12, resulting in different types like congenital ichthyosiform erythroderma and lamellar ichthyosis.
- This study aimed to identify previously unknown pathogenic variants in ABCA12 and update the understanding of how these genetic changes affect patient symptoms.
- Researchers discovered 11 new ABCA12 variants and confirmed their impact through genetic sequencing, increasing the knowledge of disease severity and phenotypes associated with these genetic mutations in ichthyosis patients.
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