Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.
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http://dx.doi.org/10.1016/j.abd.2020.03.011 | DOI Listing |
Psychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFJ Neuropathol Exp Neurol
December 2024
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
December 2024
University of California, San Francisco, Department of Ophthalmology, USA.
Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.
Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye.
Clin Genet
November 2024
Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.
View Article and Find Full Text PDFClin Cancer Res
November 2024
National Cancer Institute, Bethesda, MD, United States.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!