neurofibromatosis being manifested as scrotal elephantiasis is a very rare condition and in review of the literature no such presentation was found. here we report a 20 year old man who presented with scrotal elephantiasis and consequently, a pathological diagnosis of neurofibromatosis was reached.

The coexistence of neurofibromatosis with partial unilateral lentigines raises the possibility that partial unilateral lentigines could be a variant or forme fruste of segmental neurofibromatosis. Our patient had no cutaneous lesions of neurofibromatosis but had bilateral Lisch nodules in the eyes. Since Lisch nodules are characteristic of neurofibromatosis, we conclude that the partial unilate...

Background and Objective: Neurofibromas occur as solitary and multiple forms. The solitary ones are extraneural and more common, histologically exhibiting spindle cells with wavy nuclei, scattered among collagen fibers. Multiple neurofibromas are seen in neurofibromatosis (types I and II), including intr...

Segmental neurofibromatosis is a rare clinical finding generally with no family history and facial involvement. There are four subtypes of segmental neurofibromatosis: true segmental, localized cases with deep involvement, hereditary segmental and bilateral segmental neurofibromatosis. Here we report three patients from the same family (father, son and granddaughter) with segmental bilateral ne...

We report a case of segmental neurofibromatosis or type V neurofibromatosis, rare genetic disorder defined by limitation multiple macular cutaneous pigmentations “cafe-au-lait” (CAL) spots and/or neurofibromas to single, unilateral segment the body. A 34-year-old woman presented our Deparment with tender, subcutaneous, palpabale nodules arising from previous episiotomy scar 2 years postpartum. ...

Neurofibromas are benign peripheral nerve sheath tumors seen arising both sporadically and in patients with neurofibromatosis syndromes. Commonly they of three types: localized, diffuse or plexiform. Pigmented neurofibromas very rare, accounting to <1% all reported. We present a case 64 year old woman Neurofibromatosis 1, large swelling on the right thigh. The mass was grossly pigmented micr...

Neurofibromatosis is a autosomally dominant disorder. It has been classified as Neurofibromatosis 1 and Neurofibromatosis 2. Neurofibromatosis 1 is caused due to the mutation in the NF1 gene which is located in the pericentromeric region of the chromosome 17. Expression of the Neurofibromatosis 1 might range from subcutaneous nodules of neurofibromas to skeletal deformities. We are reporting a ...

Neurofibromatosis is a systemic hereditary disorder with varied manifestations in bone, soft tissue, the nervous system and skin. Cutaneous manifestations of neurofibromatosis are characterized by café-au-lait macules, multiple neurofibromas, Lisch nodules and intertriginous freckling. Some benign or malignant tumors such as juvenile xanthogranuloma, pheochromocytoma, and malignant melanoma can...

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micro...