Rothmund-Thomson Syndrome and Osteoma Cutis in a Patient Previously Diagnosed As COPS Syndrome

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2017 Jan 1

PMID 28039508

Citations 5

Authors

M C van Rij

M L Grijsen

N M Appelman-Dijkstra

K B M Hansson

C A L Ruivenkamp

K Mulder

R van Doorn

A P Oranje

S G Kant

Affiliations

Soon will be listed here.

Abstract

Conclusion: We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.

Citing Articles

De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic variants.

Jiang C, Zhang H, Zhao C, Wang L, Hu X, Pan Z Blood Sci. 2023; 5(2):125-130.

PMID: 37228773 PMC: 10205365. DOI: 10.1097/BS9.0000000000000152.

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Xu X, Chang C, Li M, Liu C, Liu Y Front Mol Biosci. 2021; 8:791194.

PMID: 34869606 PMC: 8637615. DOI: 10.3389/fmolb.2021.791194.

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M, Bielinsky A Int J Mol Sci. 2021; 22(2).

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Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

Zhang X, Geng S, Zheng Y An Bras Dermatol. 2020; 95(4):538-540.

PMID: 32482547 PMC: 7335851. DOI: 10.1016/j.abd.2019.10.006.

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo E, Locatelli A, Cubells Sanchez L, Romeo S, Elcioglu N, Maystadt I Int J Mol Sci. 2018; 19(4).

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