Living with Rothmund-Thomson syndrome
A rare genetic condition that mainly affects the skin, along with hair, growth, bones, and teeth.
Understanding Rothmund-Thomson syndrome
A red cheek rash usually appears between ages 3 and 6 months and spreads to the arms and legs. Over time it causes patchy color changes, thin skin, and tiny blood vessels, together called poikiloderma. People may also have sparse hair, slow growth, short height, tooth and nail differences, and bone differences. GARD notes an increased risk of certain cancers, including bone and skin cancer.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy skin color changes and thin skin (poikiloderma)
- Rash on the cheeks
- Sparse hair, eyebrows, and eyelashes
- Short stature
- Tooth differences
- Low bone density
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD says related conditions can be caused by changes in the same gene but does not name it here.
Also known as: congenital poikiloderma; poikiloderma congenitale; poikiloderma congenitale syndrome; poikiloderma of rothmund-thomson; rts
Patient organizations
- National Foundation for Ectodermal DysplasiasRothmund-Thomson syndrome · United States
- Rothmund-Thomson Syndrome FoundationRothmund-Thomson syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Rothmund-Thomson syndrome.
Explore research for Rothmund-Thomson syndrome
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