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Updated: Jun 16, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Rothmund-Thomson syndrome.

Lidia Larizza1, Gaia Roversi, Ludovica Volpi

  • 1Department of Medicine, Surgery and Dentistry, University of Milan, Italy. lidia.larizza@unimi.it

Orphanet Journal of Rare Diseases
|February 2, 2010
PubMed
Summary

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder characterized by skin rash, short stature, and cancer predisposition. RTSII is linked to RECQL4 gene mutations, impacting diagnosis and treatment strategies.

Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with diverse clinical manifestations including poikiloderma, short stature, and increased cancer risk.
  • Two subtypes, RTSI and RTSII, are recognized, with RTSII associated with RECQL4 gene mutations and a higher risk of osteosarcoma.
  • Diagnosis relies on clinical presentation and molecular testing for RECQL4 mutations, though RTSI etiology remains unknown.

Purpose of the Study:

  • To summarize the clinical features, genetic basis, diagnosis, and management of Rothmund-Thomson syndrome.
  • To highlight the importance of RECQL4 gene mutations in RTSII and their implications for cancer surveillance.
  • To provide guidance on differential diagnosis and multidisciplinary care for RTS patients.

Main Methods:

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  • Literature review of reported RTS cases.
  • Analysis of clinical diagnostic criteria and genetic findings.
  • Comparison with differential diagnoses and related genetic disorders.

Main Results:

  • RTS presents with characteristic facial rash (poikiloderma) and systemic features like skeletal abnormalities and cataracts.
  • RECQL4 gene mutations are identified in 60-65% of RTS patients, primarily causing RTSII.
  • Differential diagnosis includes other genodermatoses, and cancer surveillance is crucial for RTSII patients.

Conclusions:

  • Rothmund-Thomson syndrome requires a multidisciplinary approach for management, including genetic counseling and cancer surveillance.
  • Accurate diagnosis based on clinical and molecular findings is essential for appropriate patient care.
  • Further research into RTSI etiology and RECQL4 mutation-specific therapies may improve outcomes.