Don’t fight Multiple café-au-lait spots alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2678
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.
Prevalence is unknown, but the disease appears to be extremely rare.
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.
The etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases.
The diagnosis is based on the presence of six or more CAL macules.
Differential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).
Transmission is autosomal dominant.
Management and treatment
Isolated CAL lesions do not require medical care.
CAL spots are benign and may resolve with age.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Madson JG. Multiple or familial cafe´-au-lait spots is neurofibromatosis type 6: Clarification of a diagnosis Dermatology Online Journal 18(5):4.
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!