Diseases

Rothmund-Thomson Syndrome

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

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Classification

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MeSH Record

Synonyms

13 entry terms
  • Congenital Poikiloderma
  • Poikiloderma Atrophicans and Cataract
  • Poikiloderma Congenitale
  • Poikiloderma Congenitale of Rothmund-Thomson
  • Poikiloderma of Rothmund-Thomson
  • Congenitale, Poikiloderma
  • Congenitales, Poikiloderma
  • Poikiloderma Congenitales
  • Poikiloderma of Rothmund Thomson
  • Rothmund Thomson Syndrome
  • Rothmund-Thomson Poikiloderma
  • Rothmund-Thomson Poikilodermas
  • Syndrome, Rothmund-Thomson

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2006 (1964)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Rothmund-Thomson Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D011038. http://id.nlm.nih.gov/mesh/2026/D011038
  2. Rothmund-Thomson Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Rothmund%E2%80%93Thomson_syndrome
  3. Rothmund-Thomson Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1583485