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Dermatology Therapy pp 510 Cite as

Rothmund-Thomson syndrome

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Part of the A to Z Essentials book series (ATOZ)

Synonym(s)

Poikiloderma congenitale

Definition

Hereditary disorder characterized by multisystem abnormalities and early photosensitivity, resulting in poikiloderma

Pathogenesis

Autosomal recessive trait; genetic defect on chromosome 8

Clinical manifestation

Irregular erythema of the skin progressing to poikiloderma with atrophy, telangiectasia, hyperpigmentation, and hypopigmentation; sparse hair; premature canities; dystrophic or atrophic nails; acral hyperkeratotic lesions on elbows, knees, hands, and feet; distinctive facies with frontal bossing, saddle nose, and micrognathia; short stature; sexual abnormalities; cataracts; dental abnormalities

Differential diagnosis

Bloom syndrome; lupus erythematosus; erythropoietic protoporphyria; Werner's syndrome progeria; Fanconi's anemia; acrogeria; Cockayne syndrome; xeroderma pigmentosus; Mendes da Costa syndrome

Therapy

Sun protection; pulse dye laser therapy for telangiectases

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References

  • Vennos EM, Collins M, James WD (1992) Rothmund-Thomson syndrome: review of the world literature. Journal of the American Academy of Dermatology 27(5 Pt 1):750–762

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Editor information

Editors and Affiliations

  1. Section of Dermatology, University of Arizona, P.O. Box 5038, 85724, Tucson, AZ, USA

    N. Levine Prof. Dr.

  2. University of Phoenix, 5099 East Grand Road, 85712, Tucson, AZ, USA

    C. C. Levine

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© 2004 Springer-Verlag

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(2004). Rothmund-Thomson syndrome. In: Levine, N., Levine, C.C. (eds) Dermatology Therapy. A to Z Essentials. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29668-9_2367

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  • DOI: https://doi.org/10.1007/3-540-29668-9_2367

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-00864-4

  • Online ISBN: 978-3-540-29668-3

  • eBook Packages: Springer Book Archive