A 37-YEAR-OLD Chinese woman was noted to have had numerous café au lait (CAL) spots since birth.
At the age of 24 years, she was found to have multiple asymptomatic nodules on the trunk and the right thigh. These nodules were excised and histologic examination confirmed the diagnosis of neurofibromas. In addition, she was found to have an unusual area of hyperpigmentation affecting only the left side of the trunk. This lesion had been present since childhood and had grown slightly over time. All of her family members were unaffected. The patient had no significant medical history and was clinically asymptomatic except for mild left hip pain for the past 6 months. She had 1 son, who at 2 years old had no clinical features of neurofibromatosis (NF). The findings from the physical examination showed 6 CAL spots that ranged from 1.5 to 2.5 cm. Two CAL spots were noted on the right thigh, 1 was located in the left axilla, and the others were found on the left lower back and left leg. Four 0.5-cm neurofibromas were located on the back. In addition, multiple small brownish lentigines, 1 to 5 mm in diameter, were found on the left side of the trunk in a peppered distribution, involving the T9 to T12 dermatomes in a unilateral fashion. These lentigines were clearly demarcated in the midline anteriorly (Figure 1), but crossed over to the right in the back (Figure 2). No Lisch nodules were present on slitlamp examination of the eyes. No spinal deformity was detected. The patient had completed a doctorate degree and exhibited neither intellectual nor speech difficulties. A recent magnetic resonance image of the hip showed very small left hip joint effusion, with small focal marrow abnormality in the lower medial femoral neck. This abnormality could represent an early stress fracture.
Bhidayasiri R, Pulst S. Segmental Unilateral Lentiginosis in Generalized Neurofibromatosis Type 1. Arch Neurol. 2002;59(8):1331–1332. doi:10.1001/archneur.59.8.1331
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: