Living with Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
A rare inherited condition with small widened skin blood vessels, nail and tooth changes, and a higher risk of mouth and throat cancer.
Understanding Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
It starts in newborns and infants. Features include tiny widened blood vessels on the skin (telangiectasia), mild tooth and nail differences, and patchy hair loss over affected skin. People have a higher lifetime risk of cancer of the mouth and throat. Other cancers have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiny widened blood vessels on the face (telangiectasia)
- Dental cavities
- Grooved nails
- Sparse outer eyebrows
- Cancer of the mouth and throat (oropharyngeal)
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 cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ATR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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
Changes in the ATR gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome.
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