MONTEREY, CALIF. -- Cafe-au-lait macules can be the tip-off to a diagnosis of neurofibromatosis in a young child but only if the patient has more than five macules that are greater than 5 mm in diameter, Dr. Sheila Fallon Friedlander noted at the annual meeting of the Pacific Dermatologic Association.
Although neurofibromatosis is the classic disease associated with multiple, large cafe-au-lait macules, these lesions also can occur in other disorders. These include tuberous sclerosis, epidermal nevus syndrome, and McCune-Albright syndrome, which is characterized by precocious puberty and polycystic fibrous dysplasia.
The macules also can be an isolated finding.
Another key dermatologic due to the diagnosis of neurofibromatosis, a heritable multisystem disorder, is axillary and in-guinal freckling, said Dr. Fallon Friedlander, a pediatric dermatologist at Children's Hospital, San Diego.
In patients with a diagnosis of neurofibromatosis, juvenile xanthogranuloma is a cutaneous finding of particular concern. Children with this lesion present with a yellow waxy bump; they are at increased risk for myelocytic leukemia and warrant a CBC, she said.
Classic neurofibromas usually don't appear until late childhood or adolescence. Most neurofibromas are soft, noninvasive lesions that can be nodular, sessile, or pedunculated. Plexiform neuromas are larger, more diffuse lesions that can be locally invasive and may cause severe disfigurement associated with localized or segmental hypertrophy They maybe present early in life and even at birth.
Pseudoatrophic and blue-red macules are rare but are still worth looking for, she said.
Long-term management of neurofibromatosis is best conducted by a multidisciplinary team. Patients need to be followed for neurodevelopmental problems, hypertension, scoliosis, and cranial nerve problems. Genetic counseling is also important, Dr. Fallon Friedlander said.
The most common form of neurofibromatosis has an incidence of 1 in 2,500-3,000 births. It's an autosomal dominant disorder, but about half of cases are new mutations. Patients have an abnormal gene product, neurofibromin, on chromosome 17.
Genetic testing is now available for both the autosomal and sporadic forms, but it is not 100% sensitive in detecting the disorder. Long-term follow-up of suspected cases may be needed to accurately make the diagnosis, Dr. Fallon Friedlander said.
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