A 4-year-old boy presented with a 1-week history of left eye proptosis. Examination showed multiple café-au-lait spots and impaired left eye vision. MRI revealed left optic nerve glioma with perineural arachnoid gliomatosis (PAG) (figure, A–C). The growth patterns of optic nerve gliomas are classified into intraneural and perineural forms. The intraneural form is characterized by fusiform enlar...

A three-year-old girl with a lingual plexiform neurofibroma treated by total excision is presented. Despite their occurrence in the head and neck region, neural sheath tumors are rarely encountered in the oral cavity. It is reported that 4-7% of patients affected by neurofibromatosis display oral manifestations. Neurofibromatosis is characterized by café-au-lait spots and cutaneous neurofibroma...

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by mutations in the NF1 gene, which is located at the long arm of chromosome 17. Major characteristics include multiple café-au-lait spots and neurofibromas. Voice abnormalities have been reported to occur in this patient group. However, most studies relied on subjective measurements only. The present study r...

Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the r...

Defective mismatch repair (MMR) in humans causes hereditary nonpolyposis colorectal cancer. This genetic predisposition to colon cancer is linked to heterozygous familial mutations, and loss-of-heterozygosity is necessary for tumor development. In contrast, the rare cases with biallelic MMR mutations are juvenile patients with brain tumors, skin neurofibromas, and café-au-lait spots, resembling...

Neurofibromatosis-1 (NF-1) is a relatively common autosomal dominant disease characterized by multiple cutaneous fibromatoses and café au lait spots. It is associated with the mutation of NF-1 gene, a tumor suppressor gene located on chromosome 17q11.2. Hence, it can be considered as a familial cancer predisposition syndrome in which the affected individuals are at increased risk of developing ...

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in the NF1 gene. The NF1 gene encoding neurofibromin protein, which is strongly expressed in the nervous system and with the role as a negative regular of the ras proteins signal. All six cases with neurofibromatosis type 1 were clinical and laboratory investigated. The frequently symptoms are "café au lait" s...

A 10-month-old female patient presented at the respiratory endoscopy service with inspiratory stridor, which she had suffered from the age of one month, impaired swallowing and increasing difficulty in breathing. A fibrolaryngoscopy was performed which showed a submucous mass which occupied the arytenoids and the left aryepiglottic fold and partially occluded the laryngeal lumen (Fig. 1A). Comp...

A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome with a characteristic facies related t...

Methods We present a 14y old girl with polyostotic fibrous dysplasia (right humerus, femur, tibia, skull), precocious puberty and café au lait skin spots, diagnosed as MAS with a confirmed heterozygous c.601C>T mutation of the GNAS1 gene. Due to initial bone pain and continuously increasing bone turnover, the patient was treated with iv bisphosphonates for 4 years. We used pQCT to estimate bone...