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...

Multiple tumours of peripheral nerves are often seen in patients with neurofibromatosis of type 1 or 2. Multiple schwannomas may occur without other manifestations of neurofibromatosis. We have reviewed 12 patients with multiple schwannomas arising from peripheral lesions who did not fulfil the criteria for either type of neurofibromatosis. Four had spinal and one an intracranial lesion in addi...

BACKGROUND McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. CASE PRESENTATION An eighteen-year-old female presented with amenorrhea. She had a sh...

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...

Background and aim: It is possible to use light sources suxh as lasers to destruct melanosomes and treat pigmented skin lesions. One of the most commonly used laser systems is Q switched ruby laser with a wave-length of 694 nm. This study was performed to evaluate the efficacy of the Q switched ruby laser in the treatment of pigmented skin lesions including lentigines (simplex or solar) and caf...

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...