Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis.

Various forms of oral involvement have been reported in patients with neurofibromatosis 1 (NF1). Here, we analyze register-based associations between NF1 and hospital visits related to oral infections. The Finnish NF1 cohort encompasses all individuals with verified NF1 who have visited the Finnish central and university hospitals in 1987-2011.

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of Gene.

Background: Neurofibromatosis 1 (NF1) is a relatively common genetic disorder linked to skeletal abnormalities and elevated risk of cancer. Early onset scoliosis is common in patients with NF1 although severe scoliosis is rare. Scoliosis complicates the normal development and growth and may lead to thoracic insufficiency syndrome.

New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.

Background: Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes.

Method: Here, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742-2A>G.