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Rothmund-Thomson syndrome (Poikiloderma congenitale) associated with mental retardation, growth disturbance, and skeletal features


Poikiloderma congenitale is a distinctive atrophic dermatosis with onset during infancy. Extracutaneous abnormalities are frequently present. The authors describe a child with poikiloderma congenitale, psychomotor retardation, growth retardation, radial hypoplasia, absence of the thumbs, and foci of abnormal bone in many of the long bones. Although the term Rothmund-Thomson syndrome has been applied to all patients with poikiloderma congenitale regardless of the type of associated extracutaneous abnormalities, patients with severe growth retardation, major skeletal abnormalities, and ectodermal dysplasia who do not have juvenile cataracts appear to represent a distinct subgroup; several patients with these features have been mentally retarded.

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  1. Hailey, H., Hailey, H., Clemens, S.H.: Poikiloderma congenitale: Report of a case in America. Arch. Belg. Dermatol. 44, 345 (1941)

    Google Scholar 

  2. Kraus, B.S., Gottleib, M.A., Meliton, H.R.: The dentition in Rothmund's syndrome. J. Am. Dent. Assoc. 81, 895 (1970)

    Google Scholar 

  3. McKusick, V.A.: Mendelian Inheritance in Man. 3rd edition, p. 509. Baltimore: Johns Hopkins Press 1971

    Google Scholar 

  4. Oates, R.K., Lewis, M.B., Walker, J.A.: The Rothmund-Thomson syndrome—case report of an unusual syndrome. Aust. Paediatr. J. 7, 103 (1971)

    Google Scholar 

  5. Taylor, W.B.: Rothmund's syndrome—Thomson's syndrome. Arch. Dermatol. 75, 236 (1957)

    Google Scholar 

  6. Thannhauser, S.J.: Werner's syndrome (progeria of the adult) and Rothmund's syndrome: Two types of closely related heredofamilial atrophic dermatoses with juvenile cataracts and endocrine features; a critical study with five new cases. Ann. Intern. Med. 23, 559 (1945)

    Google Scholar 

  7. Thomson, M.S.: An hitherto undescribed familial disease. Br. J. Dermatol. 35, 455 (1923)

    Google Scholar 

  8. Thomson, M.S.: Poikiloderma congenitale. Br. J. Dermatol. 48, 221 (1936)

    Google Scholar 

  9. Wilson, G.B.: Case presentation. Proc. 10th Int. Congress Derm., 510 (1952)

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Kassner, E.G., Qazi, Q.H. & Haller, J.O. Rothmund-Thomson syndrome (Poikiloderma congenitale) associated with mental retardation, growth disturbance, and skeletal features. Skeletal Radiol. 2, 99–103 (1977).

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Key words

  • Rothmund-Thomson syndrome
  • Poikiloderma congenitale
  • Mental retardation
  • Radial hypoplasia
  • Absence of the thumb
  • Bone disease