Rothmund-Thomson Syndrome Workup

Updated: Jun 18, 2018
  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
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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, 23] 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. [24] 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. [25]


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.