Pulmonary emphysema associated with skin nodules

A 55-year-old nonsmoking female patient with a known diagnosis of neurofibromatosis type 1 (NF1) since adolescence presented with a two-month history of dyspnea and cough. During adolescence, she developed subcutaneous and cutaneous neurofibromas predominantly on the chest wall. In addition, she had café au lait spots on the skin. The patient's brother also had NF1. She denied fever. Laboratory test findings, including alpha-1 antitrypsin levels, were normal. No pulmonary function testing was performed. A chest X-ray showed multiple soft-tissue nodules on the chest wall. Chest CT demonstrated bilateral emphysematous changes with subpleural bullae, predominantly in the upper lobes, along with several cutaneous and subcutaneous nodules. A diagnosis of neurofibromatosis-associated diffuse lung disease was established. NF1 or von Recklinghausen's disease is a genetic disorder characterized by multiple tumors of ectodermal and mesodermal tissues. The disease has a varied clinical presentation, with subcutaneous and cutaneous neurofibromas, café au lait spots on the skin, and iris hamartomas (Lisch nodules) being most common. Diffuse lung disease associated with NF1 consists of an emphysematous, cystic, or bullous process with upper lobe predominance. Varying amounts of fibrosis and ground-glass opacity are also present. (author)