Rothmund-Thomson Syndrome Follow-up

  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 11, 2011
 

Complications

  • Osteosarcomas have been reported to arise in as many as 32% of patients with Rothmund-Thomson syndrome (poikiloderma congenitale). They most frequently arise in the tibia/fibula. The development of osteosarcoma among patients with the syndrome has been strongly correlated with truncating mutations of RECQL4.
  • The development of nonmelanoma skin cancers, with an earlier onset than that of the general population, has also been reported. The majority of cases were either Bowen disease or squamous cell carcinoma.[16] Squamous cell carcinoma may develop in acral keratoses.
  • While most skin cancers reported in patients with Rothmund-Thomson syndrome (poikiloderma congenitale) have been nonmelanoma skin cancers; Howell and Bray reported the occurrence of an amelanotic melanoma in a young woman with Rothmund-Thomson syndrome (poikiloderma congenitale).[17]
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Prognosis

  • In the absence of malignancy, patients usually have a normal life span.
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Patient Education

  • Patients and their families should be educated regarding the potential signs and symptoms of osteosarcoma such as bone pain, swelling, or an enlarging lesion on a limb.
  • The use of broad-spectrum photoprotection should be emphasized. Monitoring for nonhealing, ulcerated, or enlarging skin lesions suggestive of malignancy should also be encouraged.
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Contributor Information and Disclosures
Author

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

Disclosure: Nothing to disclose.

Coauthor(s)

Saira J George, MD  Staff Dermatologist, Dermatological Association of Texas

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

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

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and 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 and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

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  2. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A. Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics. Nov 1 1999;61(3):268-76. [Medline].

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  5. Wang LL, Gannavarapu A, Kozinetz CA, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. May 7 2003;95(9):669-74. [Medline].

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