TO THE EDITOR Nevus spilus is a descriptive term used to denote any cutaneous lesion with a café-au-lait macular background and superimposed on more pigmented areas. Small single nevus spilus are relatively common, and they have recently been described to be due to somatic activating HRAS mutations (Sarin et al., 2014). Larger superficial lesions with small superimposed junctional nevi in assoc...

Atopic dermatitis (AD) is a chronic immune-mediated disease characterized by intense pruritis, causing inflammation, itching, and redness of the skin. Dupilumab human monoclonal antibody that has been approved for treatment atopic dermatitis. It also linked with various adverse effects, most them confined to injection site. Café-au-lait-macules are benign pigmented lesions skin, usually seen in...

SUMMARY Neurofibromatosis, an autosomal dominant disorder is characterized by showan cell tumor affecting any Part of the body containing such cell, giving rise to appropriate fealture according to the organ involved but the most characteristic clinical aspect of the disease is pripheral or cranial nerve tumors usually associated with cafe au lait spots more than 6 in number and larger than 1....

discussion in this patient we preferred following up. afterwards, total surgical lesion resection can be performed. after a long-term follow-up, the area may receive an implant. case presentation a 40-year-old female patient presented an opaque lesion at the left mandibular side of face, in a cone-beam computerized tomography (cbct) view, during the implant placement evaluations. the patient ha...

Examination.-The left eye was normal with visual acuity 6/12. The right eye showed proptosis 20 mm. (left 15 mm.), and deviated outwards with limitation of ocular movements inwards. The fundus showed optic atrophy and the visual acuity was hand movements. A firm mass was felt in the inner side of the orbit extending backwards. Surgery.-Through a medial fomix conjunctival incision the tumour was...

La neurofibromatose de type 1 (NF1) ou maladie de Recklinghausen est une génodermatose autosomique dominante, elle touche de 1/3000 à 1/4000 personnes. La NF1 est caractérisée par une variabilité de son expression clinique qu'on peut retrouver au sein de la même famille. Des critères de diagnostic ont été établis en 1988. Le diagnostic de la NF1 est porté quand au moins deux des signes suivants...

Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell ...

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. Main neurologic manifestations are represented by neoplasms such as optic gliomas, but epilepsy can occur by CNS lesions in less than 10%. Our patient was diagnosed, based on café-au-lait spots and axillary freckles. Her brain MRI did not show only multiple CNS lesions, like hamartomas, but also mesial temporal lesions. O...

A large intrathoracic meningocele, a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column, was diagnosed in a 41-year-old female patient showing clinical features of neurofibromatosis-1 (NF-1), including café-au-lait spots, cutaneous neurofibromas, and axillary frecklings and Lisch nodules on the iris. Her daughter and son also ha...