BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by multiple pigmented skin spots (café-au-lait spots) and neurofibroma. NF1 is associated with a wide variety of benign or malignant tumors. We report a NF1 patient who received surgical treatment for rectal carcinoma and multifocal small intestinal gastrointestinal stromal tumors (GISTs). CA...

Melanin plays an important role in protecting the skin against ultraviolet light and is responsible for skin color. However, overproduction of melanin is related to several skin disorders, such as age spots, freckles, café au lait spots, Becker's nevus and other hyperpigmentation syndromes. The aim of this study was to identify the effects of kaempferol-7-O-β-d-glucuronide (K7G) and tilianin, i...

Dandy-Walker syndrome in monozygotic twins is reported. The twins reported, presented with delayed development, big head and dysmorphic features. In addition, there were significant cafe-au-lait spots on the trunk and other minor features consistent with the diagnosis of neurofibromatosis. To the best of our knowledge, Dandy-Walker syndrome in combination with neurofibromatosis in monozygotic t...

A 9-year-old girl presented with a firm occipital swelling. She had multiple café-au-lait lesions without other clinical features or family history of neurofibromatosis type 1 (NF1). MRI showed subcutaneous soft tissue mass in the left occipitotemporal region with “target sign” suggestive of plexiform neurofibroma (figure 1). There were supra and infratentorial T2-weighted hyperintense lesions,...

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...

A 25-year-old man presented for evaluation of aphasia and generalized seizures. Examination revealed café au lait macules, axillary freckling, and bilateral Lisch nodules. Surgical history included excision of an upper extremity plexiform neurofibroma and optic glioma resection followed by whole-brain radiation 20 years previously. His mother and maternal grandmother had also been diagnosed wit...

The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Café au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In t...

Case report: In an eight-year-old boy who was diagnosed with FA seven months back, blast cells in peripheral blood were detected following a respiratory illness. Physical examination revealed polydactyly, hyperpigmentation of the tongue, café au lait macules and hepatosplenomegaly. Bone marrow morphology and flow cytometry were performed, which suggested the diagnosis of AML M4. After providing...

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients wit...