In August 2015, a 35-year-old man presented from an outside hospital with chest pain, recurrent left lower lobe pneumonia and a pleural mass seen on chest radiograph. Physical exam revealed multiple café-au-lait spots on his face, back, chest, abdomen, and legs that ranged from 5mm to 15mm, as well as nodules present on the patient’s right flank, as seen in (Figure 1), and lateral to his left e...

Neurofibroma of the parapharyngeal space accounts for less than 2% of all parapharyngeal space neoplasms. A 38-year-old man presented with complaints of snoring and left-sided nasal obstruction. Medical history also revealed numerous huge skin neurofibromas and multiple café au lait spots all over the body. Pharyngeal endoscopic examination disclosed a firm, nonpulsatile submucosal mass, pushin...

INTRODUCTION Neurofibromatosis type 1 (NF1), known as von Recklinghausen's disease, is characterized by presence of café au lait spots, and neurofibromas in the skin or along the course of peripheral nerves. Diagnosis, despite extreme clinical variability, is defined by established diagnostic criteria. Clinical status is frequently complicated by systemic disorders and neoplasias. CASE REPORT...

Sir, Segmental neurofibromatosis (NF) is characterized by multiple neurofibromas or café-au-lait spots (1–4). It is unclear whether segmental NF is arranged within dermatomes or not. This disorder is considered to arise from a post-zygotic NF-1 gene mutation resulting in somatic mosaicism (5). We report here a case of segmental NF, in which multiple neurofibromas showed an unusual clinical pres...

A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonoss...

We describe a family in which seven members in three generations were affected with a rare spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had café au lait spots, on...

Constitutional mismatch repair deficiency (CMMRD), a variant of Lynch syndrome, is a rare disease characterized by café-au-lait spots, oligopolyposis, glioblastoma and lymphoma. A 24-year-old male, under surveillance for CMMRD, developed Crohn's ileitis after total colectomy with end ileostomy for colorectal cancer and failed to respond to oral corticosteroids. The patient underwent induction a...

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait spots and neurofibroma. Vascular NF-1 lesions are rare, but bleeding from such lesions can sometimes cause lethal complications because surgical hemostasis is difficult to achieve due to the fragile nature of the surrounding blood vessels and soft tissue. In recent years, some reports have suggested ...

Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with i...

Neurofibromatosis type 1 (NF1) caused by a loss-of functional mutation in NF1 encoding neurofibromin is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, intertriginous freckles, and Lisch nodules. Segmental neurofibromatosis (SN) represents a postzygotic mutation and loss of heterozygosity in neurofibromin. SN occurring in the elder persons may be associated wi...