INTRODUCTION Neurofibromatosis type-1 is a common genetic disorder which often affects the skeleton. Skeletal manifestations of neurofibromatosis type-1 include scoliosis, congenital pseudarthrosis of the tibia and intraosseous cystic lesions. Dislocation of the hip associated with neurofibromatosis type-1 is a rare occurrence and is underreported in the literature. CASE PRESENTATION We repor...

Neurofibromatosis (NF) is a genetically transmitted autosomal dominant disorder with variable penetrance and about 50% of cases representing new mutations. It is progressive in nature and one of its unique feature is the diversity of clinical expression from one patient to another and even within a family. The disease is often characterized by complex and multicellular neurofibroma. It may also...

Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the re...

Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, n...

provided the original work is properly cited. CC Type 1 neurofibromatosis, also referred to as von Recklinghausen's disease, is characterized by café-au-lait spots and benign cutaneous neurofibromas and is more common than type 2 neurofibromatosis [1,2]. In contrast, type 2 neurofibromatosis affects the central nervous system (CNS) via spinal cord tumors and bilateral vestibular schwannomas [1-...

A 23 short-stature female patient presenting initially to gynecologist for left ovarian mass and bilateral sciatica but on further investigations it had been proved to be big pelvic neurofibroma with little findings of neurofibromatosis type 1. Surgical excision had been done without any complications. We aim to discuss the manifestations of neurofibromatosis type 1 and why lack of some finding...