Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-...

INTRODUCTION McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisol...

INTRODUCTION Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 a...

Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition t...

Neurofibromatosis 1 (NF1) is an autosomal dominant disorder associated with a variety of benign and malignant lesions such as café au lait spots, neurofibromas, phaeochromocytomas, pilocytic astrocytomas, and malignant peripheral nerve sheath tumours. With an incidence of 1 in 4000, NF1 is caused by genetic alterations of the NF1 gene located on 17q11.2. Consisting of 60 exons, the NF1 gene is ...

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...

Dermatologic manifestations of parathyroid-related disorders, although rare in sporadic cases, are not uncommon in familial syndromes. Patients with familial hyperparathyroidism have several types of skin lesions. In multiple endocrine neoplasia 1, patients commonly have angiofibromas (85%) and collagenomas (70%), lesions that show loss of one 11q13 allele, the molecular abnormality in multiple...

INTRODUCTION Neurofibromatosis type 1 is an autosomal dominant disease primarily characterized by cutaneous café au lait spots, benign cutaneous neurofibromas, tumors of the central and peripheral nervous system, multiple skeletal abnormalities, and vascular abnormalities. CASE PRESENTATION Here we describe the case of a 39-year-old Japanese man with neurofibromatosis type 1 complicated by th...