Multiple café-au-lait spots
Alternate names[edit | edit source]
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
Definition[edit | edit source]
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[edit | edit source]
Prevalence is unknown, but the disease appears to be extremely rare.
Cause[edit | edit source]
- The etiology of NF6 remains unknown.
- Close linkage to the NF1 gene (17q11.2) has been reported in some cases.
Inheritance[edit | edit source]
Transmission is autosomal dominant.
Signs and symptoms[edit | edit source]
- 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.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Multiple cafe-au-lait spots
5%-29% of people have these symptoms
- Freckling
Diagnosis[edit | edit source]
The diagnosis is based on the presence of six or more CAL macules.
Treatment[edit | edit source]
Isolated CAL lesions do not require medical care.
Prognosis[edit | edit source]
CAL spots are benign and may resolve with age.
NIH genetic and rare disease info[edit source]
Multiple café-au-lait spots is a rare disease.
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