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Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.
Scand J Immunol
December 2024
Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia.
The purpose of this study was to identify new and low-frequency gene variants using whole exome sequencing (WES) in patients with childhood-onset systemic lupus erythematosus (cSLE), that may be involved in the pathogenesis of SLE. We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to conventional therapy, a family pattern of occurrence and/or syndromic characteristics. After performing WES and analysis of gene variants, 17 novel and/or low-frequency variants were identified in 7 patients.
View Article and Find Full Text PDFDyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.
Pediatr Dermatol
January 2024
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
A 6-year-old female with a history of Aicardi-Goutières syndrome (AGS) presented to dermatology clinic with hypopigmented and hyperpigmented macules and patches consistent with dyschromatosis symmetrica hereditaria (DSH). Previous genetic workup demonstrated a de novo, heterozygous mutation in the adenosine deaminase acting on RNA 1 (ADAR) gene. While the co-occurrence of AGS and DSH has previously been described in mutations of the ADAR gene, our case highlights the potential association between these disorders that may aid in earlier future diagnosis of AGS.
View Article and Find Full Text PDFAicardi-Goutières syndrome 6 (AGS6) is a serious auto-immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly. Dyschromatosis symmetrica hereditaria (DSH), as pigmentary genodermatosis, is a characterized mixture of hyperpigmented and hypopigmented macules.
View Article and Find Full Text PDFA case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma.
Int J Surg Case Rep
February 2021
Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia. Electronic address:
Introduction And Importance: Dyschromatosis symmetrica hereditaria (DSH) are rare autosomal dominant pigmentary genodermatosis characterized by reticular hyper- and hypopigmented skin macules on the dorsal aspect of the extremities and freckle-like spots on the face, sparing the palms and soles. Cutaneous hemangiomas were not reported in the literature with DSH. We describe for the first time to the best of our knowledge a case of DSH with histopathologically confirmed eyelid hemangioma.
View Article and Find Full Text PDFCo-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.
Clin Exp Dermatol
June 2021
Departments of, Department of, Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.
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