National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Multiple café-au-lait spots


Other Names:
NF6; Multiple cafe´-au-lait syndrome; Familial cafe´-au-lait spots; NF6; Multiple cafe´-au-lait syndrome; Familial cafe´-au-lait spots; Multiple cafe´-au-lait spots; Multiple cafe-au-lait spots; Autossomal dominant café-au-lait spots; Neurofibromatosis type 6 See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2678

Definition
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.

Epidemiology
Prevalence is unknown, but the disease appears to be extremely rare.

Clinical description
The macules may appear in infancy, but usually they are detected after 2 years of age. CAL lesions are hyperpigmented with smooth or irregular borders. Their size may vary from a few millimeters to more than 10 cm.

Etiology
The etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases.

Diagnostic methods
The diagnosis is based on the presence of six or more CAL macules.

Differential diagnosis
Differential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).

Genetic counseling
Transmission is autosomal dominant.

Management and treatment
Isolated CAL lesions do not require medical care.

Prognosis
CAL spots are benign and may resolve with age.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2009

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Multiple cafe-au-lait spots 0007565
5%-29% of people have these symptoms
Freckling 0001480
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Madson JG. Multiple or familial cafe´-au-lait spots is neurofibromatosis type 6: Clarification of a diagnosis Dermatology Online Journal 18(5):4. 
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple café-au-lait spots. Click on the link to view a sample search on this topic.

News

Other Conferences

  • Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
    Monday, September 30, 2013 - Tuesday, October 01, 2013
    Location: Radisson Blu Hotel, Cardiff, Wales
    Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.

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