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Rothmund-Thomson Syndrome Differential Diagnoses

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

Diagnostic Considerations

Acrogeria (Gottron syndrome), an autosomal recessive disease, is characterized by acral poikiloderma in infancy and lipoatrophy.

Bloom syndrome, an autosomal recessive disease, is characterized by telangiectases and light sensitivity with erythema on the face and other sun-exposed areas. Patients with Bloom syndrome do not have a true poikiloderma.

Patients with Cockayne syndrome develop a photodistributed erythema, atrophy, and hyperpigmentation.

Patients with dyskeratosis congenita develop reticulated hyperpigmentation or hypopigmentation on the face, the neck, the trunk, and the thighs.

Erythropoietic protoporphyria causes erythematous, edematous, photodistributed plaques after exposure to ultraviolet light.

Fanconi anemia, an autosomal recessive disease, is characterized by generalized, dusky, olive-brown pigmentation that is most intense on the lower part of the trunk, in the flexures, and on the neck in 85% of patients; pancytopenia; and skeletal malformations, including aplasia or hypoplasia of the thumb, metacarpal, or radius, in 60% of patients.

Kindler syndrome, an autosomal recessive disorder, is characterized by acral bullae at birth and after minor trauma, acral hyperkeratosis, mucous membrane fragility with esophageal and urethral strictures, and webbing of the fingers and the toes. Acrokeratotic poikiloderma of Weary, which probably is an autosomal dominant form of Kindler syndrome, is characterized by a widespread eczematous dermatitis and acral bullae in infancy, with the later development of acral keratoses.[16]

Poikiloderma with neutropenia is an autosomal recessive disorder characterized by generalized poikiloderma, short stature, nail dystrophy, and neutropenia.

Lupus erythematosus may present with a characteristic butterfly facial erythema.

Mendes da Costa syndrome, an X-linked recessive disease, is characterized by alopecia and generalized bullae in infants; poikiloderma develops later.

Patients with progerioid Werner syndrome develop sclerodermoid changes on acral areas, with mottled hyperpigmentation, telangiectasias, and premature canities.

Differential Diagnoses

 
 
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 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.

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. 1999 Nov 1. 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. 2003 May 7. 95(9):669-74. [Medline].

  6. Popadic S, Nikolic M, Gajic-Veljic M, Bonaci-Nikolic B. Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. Acta Dermatovenerol Alp Panonica Adriat. 2006 Jun. 15(2):90-3. [Medline].

  7. Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K. Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?. Eur J Dermatol. 2008 Nov-Dec. 18(6):632-4. [Medline].

  8. Macris MA, Krejci L, Bussen W, Shimamoto A, Sung P. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA Repair (Amst). 2006 Feb 3. 5(2):172-80. [Medline].

  9. Werner SR, Prahalad AK, Yang J, Hock JM. RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochem Biophys Res Commun. 2006 Jun 23. 345(1):403-9. [Medline].

  10. Woo LL, Futami K, Shimamoto A, Furuichi Y, Frank KM. The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Exp Cell Res. 2006 Oct 15. 312(17):3443-57. [Medline].

  11. Dietschy T, Shevelev I, Pena-Diaz J, et al. p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. J Cell Sci. 2009 Apr 15. 122:1258-67. [Medline].

  12. Maire G, Yoshimoto M, Chilton-MacNeill S, Thorner PS, Zielenska M, Squire JA. Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma. Neoplasia. 2009 Mar. 11(3):260-8, 3p following 268. [Medline]. [Full Text].

  13. Wu J, Capp C, Feng L, Hsieh TS. Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. Dev Biol. 2008 Nov 1. 323(1):130-42. [Medline]. [Full Text].

  14. Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, et al. The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. DNA Repair (Amst). 2013 Jul. 12(7):518-28. [Medline]. [Full Text].

  15. Gupta S, De S, Srivastava V, Hussain M, Kumari J, Muniyappa K, et al. RECQL4 and p53 potentiate the activity of polymerase ? and maintain the integrity of the human mitochondrial genome. Carcinogenesis. 2014 Jan. 35(1):34-45. [Medline].

  16. Prendiville JS, Fine JD, Esterly NB. Kindler syndrome and epidermolysis bullosa simplex. J Am Acad Dermatol. 1990 Aug. 23(2 Pt 1):327-8. [Medline].

  17. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. 2008 Aug. 191(2):W62-6. [Medline].

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  20. Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, et al. Osteosarcoma in patients with Rothmund-Thomson syndrome. Pediatr Hematol Oncol. 2015 Feb. 32 (1):32-40. [Medline].

  21. Piquero-Casals J, Okubo AY, Nico MM. Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. Pediatr Dermatol. 2002 Jul-Aug. 19(4):312-6. [Medline].

  22. Howell SM, Bray DW. Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. Arch Dermatol. 2008 Mar. 144(3):416-7. [Medline].

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