Neurofibromatosis Type 1 with Congenital Pseudarthrosis Tibialis

Abstract

Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder. Café-au-lait macule (CALM), neurofibroma, and freckling are skin disorders in NF-1. Skeletal deformities are quite common, one of which is pseudoarthrosis of the long bone. A case of NF-1 with a skeletal deformity in the form of congenital pseudarthrosis in an 11-year-old girl was reported. The diagnosis of NF-1 was based on clinical appearance of more than six cafe-au-lait macules on the neck, trunk, and both upper and lower extremities, intertriginous freckling, neurofibromas in almost entire body, plexiform neurofibroma from flank to the bottocks. The complication as CPT on her left leg was present with intact tibial bone and mild anterolateral angulation on radiographic examination. The lesions of cutaneous neurofibromas were treated by cryosurgery procedure within interval 2–4 weeks for a year, that resulted in smaller size of neurofibromas and remaining hypopigmented macules, as well as disappearance of some small lesions. There were no specific treatments for CPT in this patient and still observed by the orthopedic department. Individuals with NF1 are predisposed to developing abnormalities in a number of body systems that can have a significant impact on quality of life. Follow up periodically allows the physician to identify NF-1 complications early.