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Forty-one children,ranging in age from 1 month to 14 years,had six or more cafe au lait spots at their initial visit and were examined annually.Signs of neurofibromatosis type 1 eventually developed in 24.The most common feature to appear to confirm the diagnosis was skin-fold freckling,which occurred in 18 subjects.Diagnosis was based on the appearance of Lisch nodules in 5,and on neurofibromas in 3.In most instances,diagnosis was established within 3 years of initial evaluation,usually before 5 years of age.Six children had a segmental distribution of cafe au lait spots, suggesting segmental neurofibromatosis.In 3,diagnoses other than neurofibromatosis type 1 were established(Bannayan-Riley-Rulvalcaba syndrome,multiple lentigines syndrome,and fibrous dysplasia).In 8 subjects only multiple cafe au lait spots were present,and no definite diagnosis has been established.It is concluded that with regular follow-up,including physical and ophthalmological examinations,a definite diagnosis,most commonly neurofibromatosis type 1,can be established for most children having multiple cafe au lait spots. |
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