Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Neurofibromatosis type 6

Synonym(s) Familial café-au-lait spots
Multiple café-au-lait spots
Multiple café-au-lait syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Childhood
  • L81.3
  • C1861975
MeSH -
MedDRA -


Disease 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.


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.


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.


CAL spots are benign and may resolve with age.

Expert reviewer(s)


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.