Condition
Rothmund-Thomson Syndrome
Dermatology
Overview
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.
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Rothmund-Thomson Syndrome
- Topic type
- Condition
- Category
- Dermatology
- MeSH classification
- C16.131.831.775|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760
Preparing for an appointment about Rothmund-Thomson Syndrome
If you are speaking with a healthcare professional about Rothmund-Thomson Syndrome, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
Finding care related to Rothmund-Thomson Syndrome
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.