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Richard Kellermayer, MD, PhD; H. Annika Siitonen, MSc; Kinga Hadzsiev, MD; Marjo Kestilä, PhD; György Kosztolányi, MD, PhD

Arch Dermatol. 2005;141:617-620.

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.

Author Affiliations: Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary (Drs Kellermayer, Hadzsiev, and Kosztolányi); Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland (Ms Siitonen and Dr Kestilä); and MTA-PTE Clinical Genetics Research Group, Pécs, Hungary (Dr Kosztolányi).