Rothmund-Thomson syndrome: Review of the world literature

https://doi.org/10.1016/0190-9622(92)70249-FGet rights and content

Abstract

Rothmund-Thomson syndrome is a rare, inherited disorder characterized by poikiloderma-tous skin changes that appear in infancy. The inheritance is autosomal recessive. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, and a higher than expected incidence of malignancy. This extensive review of the world literature clarifies aspects of the inheritance, incidence of characteristic features, and malignant potential of this disease. Insight into its origin is provided through a review of the clinical and in vitro studies of endocrine function and possible DNA repair abnormalities.

References (150)

  • M Tokunaga et al.

    Rothmund-Thomson syndrome associated with osteosarcoma

    J Jap Orthop Assoc

    (1976)
  • M Tokunaga et al.

    Increased excretion of urinary glycosaminoglycans in a case of Rothmund-Thomson syndrome

    Tohoku J Exp Med

    (1987)
  • JH Sillevis-Smitt et al.

    The poikiloderma of Rothmund-Thomson syndrome:changes in Langerhans cell morphology and distribution

    Dermatologica

    (1989)
  • JL Burton

    Poikioderma Congenitale

    Br J Dermatol

    (1977)
  • AC Curtis

    Rothmund’s syndrome (Poikiloderma Congenitale of Thomson) v.s? pellegra changes

    Arch Dermatol

    (1960)
  • C Moss

    Rothmund-Thomson syndrome:a report of two patients and a review of the literature

    Br J Dermatol

    (1990)
  • E Vanscheidt et al.

    Rothmund Thomson syndrome or Thomson syndrome:an analysis of the literature exemplified by a personal case

    Monatsschr Kinderheilkd

    (1988)
  • WB Taylor

    Rothmund’s syndrome-Thomson's syndrome

    Arch Dermatol

    (1957)
  • HK Silver

    Rothmund-syndrome:an oculocutaneous disorder

    Am J Dis Child

    (1966)
  • DG Starr et al.

    Non-dermatological implications and genetic aspects of the Rothmund-Thomson syndrome

    Clin Genet

    (1985)
  • EG Hall et al.

    Rothmund-Thomson syndrome with severe dwarfism

    Am J Dis Child

    (1980)
  • S Alexander

    Rothmund-Thomson syndrome:two case reports

    Br J Dermatol

    (1974)
  • JE Nissim

    Rothmund syndrome

    Birth Defects

    (1971)
  • J Lessem et al.

    Epilepsy and myopathy in a patient with Rothmund-Thomson's syndrome

    Acta Med Scand

    (1980)
  • I Sri-Skausda-Rajah-Sivajoham et al.

    Rothmund Thomson syndrome in an oriental patient

    Ann Ophthalmol

    (1975)
  • RM Maurer et al.

    Rothmund’s syndrome:a cause of resorption of phalangeal tufts and dystrophic calcification

    Radiology

    (1967)
  • BS Kraus et al.

    The dentition in Rothmund’s syndrome

    J Am Dent Assoc

    (1970)
  • TH Kirkham et al.

    The ophthalmic manifestations of Rothmund’s syndrome

    Can J Ophthalmol

    (1975)
  • RS Blinstrub et al.

    Poikiloderma congenitale:report of two cases

    Arch Dermatol

    (1964)
  • J Reid

    Congenital poikiloderma with osteogenesis imperfecta

    Br J Dermatol

    (1967)
  • A Rook et al.

    Congenital cutaneous dystrophy (Thomson's type)

    Br J Dermatol Syph

    (1949)
  • D Buckley

    Rothmund Thomson syndrome with calcinosis cutis

    Br J Dermatol

    (1969)
  • MJ Cheesbrough et al.

    Onecasereport: poikiloderma congenitale

    Br J Dermatol

    (1978)
  • A Rook et al.

    Poikiloderma congenitale: Rothmund-Thomson syndrome

    Acta Derm Venereol (Stockh)

    (1959)
  • MB Lewis

    Rothmund-Thomson syndrome

    Aust J Dermatol

    (1966)
  • RK Oats et al.

    The Rothmund-Thomson syndrome:case report of an unusual syndrome

    Aust Paediatr J

    (1971)
  • C Vallet et al.

    Congenital poikiloderma Rothmund-Thomson's syndrome

    Ann Dermatol Venereol

    (1983)
  • A Ourgaud et al.

    Rothmund’s syndrome: observations in one case

    J Hum Genet

    (1976)
  • JK Kristensen

    Poikiloderma congenitale:an early case of a Rothmund Thomson syndrome

    Acta Derm Venereol (Stockh)

    (1975)
  • LM Bechelli et al.

    Rothmund’s syndrome

    Ann Dermatol Vénéréol

    (1984)
  • VA Zamith et al.

    Rothmund’s syndrome:serum and urine aminogram study of a family

    Rev Bras Pesqui Med Biol

    (1974)
  • M Nathanson et al.

    Syndrome de Rothmund-Thomson avec glaucome: étude endocrini-enneetrevuede literature

    Semin Hôp Paris

    (1983)
    M Nathanson et al.

    Syndrome de Rothmund-Thomson avec glaucome: étude endocrini-enneetrevuede literature

    Ann Pediatr (Paris)

    (1983)
  • F Koch et al.

    D and G trisomie in a patient with Rothmund syndrome

    Kindrheild

    (1967)
  • C Kanitatus et al.

    Horny and verrucose lesions in the course of the syndrome of Thomson

    Ann Dermatol Syphiligr

    (1972)
  • E Alessi et al.

    Sindrome de Rothmund-Thomson

    G Ital Dermatol Milano

    (1972)
  • A Marquina et al.

    Rothmund-Thomson Syndrome

    Actas Dermosifilogr

    (1975)
  • OE Rodermund et al.

    Thomson's syndrome: contribution to congenital poikiloderma

    Dermatol Monatsschr

    (1977)
  • A Krebs et al.

    Poikiloderma congenitale. (R-T syndrome)

    Dermatologica

    (1974)
  • H Feldrich

    Poikiloderma congenitale in twins

    Acta Derm Vénéréol

    (1955)
  • EH Mandel

    Poikiloderma congenital (Rothmund Thomson syndrome)

    Arch Dermatol

    (1965)
  • Cited by (0)

    The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Department of the Army or the Department of Defense.

    1

    From the Dermatology Service, Walter Reed Army Medical Center.

    View full text