Familial multiple cafe au lait spots, also known as autosomal dominant multiple cafe au lait spots or neurofibromatosis type 6, is a rare, cutaneous

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

which is characterized by the hereditary cutaneous presence of several cafe-au-lait spots without any other symptoms of

neurofibromatosis Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, e ...

. De novo mutation, Sporadic cases may be called "sporadic multiple cafe au lait spots". Few cases have been described in medical literature, although it is estimated that the presence of multiple cafe au lait spots without NF1 is rare (but not extremely rare) among the general population.

History

It was first discovered when Riccardi ''et al.'' described multiple families with cafe-au-lait spots and no association for neurofibromatosis in 1980. In 1993, Charrow ''et al.'' described five members from a four-generation family who had the characteristic tell-tale sign of neurofibromatosis, multiple cafe au lait spots; however, testing of the gene usually involved in neurofibromatosis revealed it to be normal. They proposed the name for this condition. In 1993, Brunner ''et al.'' tested the NF1 locus on a small 2-generation family with MCALS affecting three of its members (a woman and her two daughters), and they found that the woman and her daughters had a mutation in the same NF1 locus that was different from the one that causes neurofibromatosis type I itself. In 1994, Arnsmeier ''et al.'' described twelve patients from three unrelated families; one of the families had axillary and inguinal freckles and Lisch nodule, Lisch nodes. All three families had no other signs of neurofibromatosis type I.

References

{{reflist Rare genetic syndromes Syndromes affecting the skin