0.81 Images of memorable cases: case 91

91. neurofibromatosis type 1

The most common type of neurofibromatosis, affecting about one in 5,000 people. Diagnostic criteria for this autosomaldominant disorder include at least two of the following: 1) six or more café-au- lait spots larger than 5mm in diameter in children and larger than 15mm inteenagers and adults; 2) at least two neurofibromas of any type or one plexiform neurofibroma; 3) freckling in the inguinal or axillary regions; 4) optic nerveglioma; 5) two or more iris hamartomas (Lisch nodules); 6) a distinct osseous lesion; and 7) a first-degree relative (parent, sibling, or child) with type 1neurofibromatosis.

The 45-year-old patient shown had café-au- lait spots noted at birth and neurofibromas noted during puberty. Her mother hadsimilar findings.