Living with Cafe au lait spots, multiple
A skin condition with several light brown patches and no other signs of neurofibromatosis.
Understanding Cafe au lait spots, multiple
It is noted in childhood. Some people may also have freckling.
Signs & symptoms
GARD lists this as the main symptom:
- Several cafe-au-lait spots (light brown patches)
- Freckling (less common)
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in LZTR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Tumor Foundation, Neurofibromatosis Midwest and Neurofibromatosis Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Children's Tumor Foundation, Neurofibromatosis Midwest, Neurofibromatosis Network
- 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 Tumor Foundation 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
Changes in the LZTR1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: autosomal dominant café au lait spots; cafe-au-lait spots, multiple; familial cafe-au-lait spots; familial café-au-lait spots; familial calms (café-au-lait macules) isolated; familial isolated café-au-lait macules
Patient organizations
- Children's Tumor FoundationCafe au lait spots, multiple · United States
- Neurofibromatosis MidwestCafe au lait spots, multiple · United States
- Neurofibromatosis NetworkCafe au lait spots, multiple · United States
- Neurofibromatosis NortheastCafe au lait spots, multiple · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
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