Congenital poikiloderma with verruciform hyperkeratosis and bone abnormalities. Variant of Rothmund - Thomson syndrome (type Thomson)

S. Szalai, C. Szalai, E. Torok

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Rothmund-Thomson syndrome is a rare inherited disorder. The inheritance is autosomal recessive. In 1868 Rothmund described several children with cataract and a peculiar degeneration of the skin. In 1923 Thomson described sisters who had congenital poikiloderma, but no cataract. Since the skin biopsy showed a type of hyperkeratosis similar to that described by Rothmund, the eponym of Rotmund-Thomson syndrome was coined. We describe a 4-year-old boy with congenital poikiloderma, photosensitivity, missing thumb and hypoplastic radius, small stature, deep voice, sparse hair, normal intelligence but no cataract.

Original languageEnglish
Pages (from-to)77-80
Number of pages4
JournalEuropean Journal of Pediatric Dermatology
Volume9
Issue number2
Publication statusPublished - 1999

Fingerprint

Rothmund-Thomson Syndrome
Cataract
Bone and Bones
Eponyms
Skin
Intelligence
Hair
Siblings
Biopsy

Keywords

  • Congenital poikiloderma
  • Limb defects
  • Rothmund-Thomson syndrome
  • Verruciform hyperkeratosis

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

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T1 - Congenital poikiloderma with verruciform hyperkeratosis and bone abnormalities. Variant of Rothmund - Thomson syndrome (type Thomson)

AU - Szalai, S.

AU - Szalai, C.

AU - Torok, E.

PY - 1999

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AB - Rothmund-Thomson syndrome is a rare inherited disorder. The inheritance is autosomal recessive. In 1868 Rothmund described several children with cataract and a peculiar degeneration of the skin. In 1923 Thomson described sisters who had congenital poikiloderma, but no cataract. Since the skin biopsy showed a type of hyperkeratosis similar to that described by Rothmund, the eponym of Rotmund-Thomson syndrome was coined. We describe a 4-year-old boy with congenital poikiloderma, photosensitivity, missing thumb and hypoplastic radius, small stature, deep voice, sparse hair, normal intelligence but no cataract.

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KW - Limb defects

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KW - Verruciform hyperkeratosis

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