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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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© 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