To review the thoracic involvementof neurofibromatosis type 1 (NF-1) To describe the pulmonary CT-findings of patients with NF-1 To propose a characterization of neurofibromatosis-associated cysts that helps differentiate it from other cystic lung diseases

Neurofibromatosis type 1 (NF-1), also known as Von Recklinghausen’s disease, is an autosomal dominant dysplasia of ectoderm and mesoderm with a variable clinical expression but near-complete penetrance before the age of 5 years [1-3]. The estimated incidence is one in 3000 births. At least 1 million individuals worldwide are believed to be living with NF-1 [2]. The disease has no predilection for sex, and several studies have failed to establish any significant racial difference in its incidence [2,3]. NF-1 results from a mutation in the...

We reviewed currently published literature on the main characteristics of NF-1, with a focus on NF-DLD, and gather with clinical data and chest CT-evaluation of 13 NF-1-patients of our institution to illustrate the pulmonary findings of this phakomatoses, aiming to propose a group of characteristicsthat helps in differentiating with other cystic lung diseases. Of the 13 patients, 2 (15%) had a history of smoking and 11 (85%) had no history of smoking. Regarding the smoking load, the smoking patients reported a quantity-time of 3 pack-years...

Various CT findings of lung involvement, including cysts, bullae, ground-glass opacities, bibasilar reticular opacities and emphysema, are found in NF-1 patients. Based on the results of our study, we suggest that the association of upper lobe cystic lesions and thin-walled bullae, with or without pulmonary fibrosis, is indeed the hallmark of NF-DLD and that chest CT should be performed for every patient with NF-1 who seeks attention for pulmonary symptoms or undergoes a comprehensive screening examination.

Departamento de Radiologia, Hospital Universitário Clementino Fraga Filho (HUCFF) - UFRJ, RJ Contact: [email protected] [email protected] Nothing to disclose

1. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981;305(27):1617-27. 2. Reviron-Rabec L, Girerd B, Seferian A, et al. Pulmonary complications of type 1 neurofibromatosis. Rev Mal Respir. 2016;33(6):460-73. 3. Antônio JR, Goloni-Bertollo EM, Trídico LA. Neurofibromatosis: chronological history and current issues. An Bras Dermatol. 2013;88(3):329-43. 4. Ueda K, Honda O, Satoh Y, et al. Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: Prevalence rates and correlations of thoracic findings. Eur J Radiol. 2015;84(6):1191-5. 5. Zamora AC, Collard HR, Wolters PJ, Webb...