Neurofibromatosis type 1 (NF1) is the most frequent neurocutaneous disorder with autosomal dominant inheritance. Phenotype variability is high ranging from merely several café-au-lait spots to malignant peripheral nerve sheath tumors or severe disfigurement through plexiform neurofibromas. Identification of genetic factors that modify the NF1 phenotype would contribute to the understanding of N...

Background. Cutaneous alterations are common in neonates. The majority of lesions are physiological, transient, or self-limited and require no therapy. Although much has been reported on the various disorders peculiar to the skin of infant, very little is known about variations and activity of the skin in neonates. Objective. To study the various pattern of skin lesions in newborn and to estima...

Case report A 15-year-old girl having right thoracic scoliosis with documented progression of 100 Cobb degrees within 2 years is presented. Medical history: Until the age of thirteen the girl developed normally, then the parents noted trunk asymmetry. The girl was radiographed and right thoracic scoliosis was diagnosed. Cobb angle was 20 degrees (Th7-L2), Risser sign 1. No signs of congenital c...

Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder. Homozygous and compound heterozygous mutations in APC, MLH1, MSH2...

BACKGROUND Pancreatic endocrine tumors (PETs) are rare and can occur as part of neurofibromatosis type 1 (NF1). Gastrinomas are functional PETs that are rarely associated with NF1. Only two cases of their occurrence have been reported in the literature. CASE REPORT A 28-year-old woman was admitted for further evaluation of epigastric soreness, heartburn, nausea, vomiting, diarrhea, and a sign...

OBJECTIVE Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, which occurs in about one in 3000-4000 people. Its hallmark features include multiple café-au-lait spots and neurofibromas. Voice characteristics of NF1 patients have been documented using both subjective and objective evaluations. However, the relative impact of these voice characteristics on daily activ...

Neuropathic pain stems various sources including schwannomatosis (SCH), a disease that affects about five thousand Brazilians. SCH is characterized by multiple and intensely painful schwannomas. Differential diagnosis of SCH includes, especially, neurofibromatosis types 1 and 2. A typical case of SCH, possibly the first recorded in Brazil, is presented and discussed in detail and compared with ...

Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding. The patient had extensive ...

The Q-switched ruby laser (694 nm, 25-40 nsec) is an effective and safe therapeutic device for the treatment of tattoos and well-defined, benign, pigmented epidermal and dermal lesions. Because of its selective mode of action, dermal pigments of natural and artificial origin are destroyed photothermically and removed without scar. This method is exceptionally suited for the elimination of lay a...

We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximat...