Pulmonary manifestations in von Recklinghausen's disease.

Von Recklinghausen's disease, neurofibromatosis type 1 (NF1), is a commonautosomal disorder characterized by multiple neurofibromas, cafe au lait spots, and Lisch nodules of the iris with a variable clinical expression. This disorder appears to affect all races, with a prevalence estimated to be 1 in 3,000 live births. The NF1 gene is located in 17ql 1.2. However, due to the high mutation rate at the NF1 locus, most patients are expected to have different mutations (1-3). Lung involvement in NF1 is a well-known complication, and it consists of diffuse interstitial fibrosis and bullae, either alone or in combination. The interstitial fibrosis characteristically involves both lungs symmetrically with some basal predominance, whereas the bullae usually are asymmetric and tend to develop in the upper lobes (4). However, histological examination has revealed that the fibrosis is seen in all patients with bullae. Estimated incidences of interstitial fibrosis have ranged from 7 to 10 percent (5, 6). Even though the NF1 gene has already been discovered, it is not clear whether the NF1 locus is also responsible for the lung involvement. In this issue, a 48-year-old man with NF1 (von Recklinghausen' s disease) whopresented with distal acinar emphysema and interstitial pneumonia is reported ( 7 ).