A patient with Rothmund-Thomson syndrome and all features of RAPADILINO

Richard Kellermayer, H. Annika Sütonen, Kinga Hadzsiev, Marjo Kestilä, György Kosztolányi

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and Limb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma-a hallmark of RTS-has been described as generally absent in RAPADILINO syndrome. Observations: We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.

Original languageEnglish
Pages (from-to)617-620
Number of pages4
JournalArchives of Dermatology
Volume141
Issue number5
DOIs
Publication statusPublished - May 1 2005

ASJC Scopus subject areas

  • Dermatology

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