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Rothmund-Thomson Syndrome Workup

  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Mar 30, 2016

Genetic Testing

By sequence analysis of RECQL4, a disease-causing mutation can be identified in approximately 66% of individuals diagnosed with Rothmund-Thomson syndrome.[5] Although the sensitivity of the genetic test is 66%, the clinical specificity approaches 100%; thus a negative test does not rule out the diagnosis of Rothmund-Thomson syndrome but a positive test is confirmatory.

A Clinical Utility Gene Card for Rothmund-Thomson syndrome, published in 2012, summarizes guidelines for the use of genetic testing for the syndrome using mutational analysis of the RECQL4 gene.[18] In classic cases, a correct diagnosis may be made on clinical findings (such as early-onset facial poikiloderma accompanied by radial-ray defects, growth defects, and sparse hair). Genetic testing of the RECQL4 gene is of particular value in evaluating borderline or atypical cases in which other genodermatoses presenting with poikiloderma or other overlapping features such as poikiloderma with neutropenia, dyskeratosis congenita, Werner syndrome, and Fanconi anemia must also be considered. Additionally, the test should be offered to all juvenile osteosarcoma cases with poikilodermalike lesions. In these cases, genetic testing of the RECQL4 gene would allow for establishment of the correct diagnosis and thus accurate syndrome-specific surveillance.


Imaging Studies

In Rothmund-Thomson syndrome (poikiloderma congenitale), baseline skeletal radiographs of the long bones by age 5 years are recommended due to the high frequency of skeletal dysplasias, many of which may be clinically asymptomatic.[17]


Histologic Findings

Histologic examination of poikilodermatous skin in children reveals a flattened, atrophic epidermis with derma-epidermal junction edema and dermal vasodilatation, possibly with a perivascular lymphocytic infiltrate. Adult skin in exposed areas reveals patchy Bowenoid dyskeratosis in the epidermis and fragmented dermal elastic tissue.

Contributor Information and Disclosures

Sylvia Hsu, MD Professor, Department of Dermatology, Baylor College of Medicine

Disclosure: Nothing to disclose.


Saira J George, MD Assistant Professor of Dermatology, The University of Texas MD Anderson Cancer Center

Saira J George, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Andrea Leigh Zaenglein, MD Professor of Dermatology and Pediatrics, Department of Dermatology, Hershey Medical Center, Pennsylvania State University College of Medicine

Andrea Leigh Zaenglein, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Received consulting fee from Galderma for consulting; Received consulting fee from Valeant for consulting; Received consulting fee from Promius for consulting; Received consulting fee from Anacor for consulting; Received grant/research funds from Stiefel for investigator; Received grant/research funds from Astellas for investigator; Received grant/research funds from Ranbaxy for other; Received consulting fee from Ranbaxy for consulting.

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Note the poikiloderma and skeletal abnormalities.
Close-up of poikiloderma.
Close-up of poikiloderma.
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