Multiple café-au-lait spots

Alternate names

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

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.

Cause

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission is autosomal dominant.

Signs and symptoms

• 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

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

Treatment

Isolated CAL lesions do not require medical care.

Prognosis

CAL spots are benign and may resolve with age.

NIH genetic and rare disease info

• NIH info on Multiple café-au-lait spots

Multiple café-au-lait spots is a rare disease.