McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old...

The annual incidence of cervical artery dissection is 2.6-3.0 per 100,000 population, and that of vertebral artery dissection, in particular, is 1-1.5 per 100,000 population. The mean age of patients with a cervical artery dissection is 46.3 years, and their male-to-female ratio is equivalent [1,2]. Cervical artery dissection may arise spontaneously or traumatically, even due to trivial events ...

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreover, identifying genetic alterations in NF1 patients ...

OBJECTIVE To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus. CASE DESCRIPTION Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axil...

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...

Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to defin...

Perrault syndrome is an autosomal recessive disorder characterized by sensorineural deafness and ovarian dysgenesis. Some patients also have neurologic abnormalities, including cerebellar ataxia, nystagmus, polyneuropathy and mild mental retardation. The syndrome is known to be caused by mutations in HSD17B4 or HARS2 until now but few patients were reported. We report on two sporadic Korean pat...

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease that is characterized by the presence of multiple neurofibromas, café-au-lait spots and iris hamartomas. It is well established that the incidence of tumors in patients with NF1 is high compared with the normal population and that the majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant ...