Neurofibromatosis in a Toddler With Back Pain
Neurofibromatosis type 1 (NF 1) is a genetic disorder considered to have an autosomal-dominant pattern of inheritance that results in skin hyperpigmentation, bone malformation, and tumor formation in nerves and their associated tissues (National Institute of Neurological Disorders and Stroke [NINDS], 2012). The birth incidence of NF 1 is 1 in 2500, and the prevalence is about 1 in 4000 worldwide (Pasmant, Vidaud, Vidaud, & Wolkenstein, 2012). Mutations in the NF 1 gene along chromosome 17 result in production of ineffective neurofibromin, a protein that regulates cell growth and division (Genetics Home Reference [GHR], 2012; Pasmant et al., 2012). As a result, tumors form along the nerves of the body (GHR, 2012). Although some people inherit this altered gene, others may have a newly altered NF 1 gene and be the first person in their family to be affected with this condition (John Hopkins Medicine [JHM], n.d.). NF 1, which also is known as "von Recklinghausen disease," has gene mutations that may be present at birth, but physical manifestations, such as café au lait spots, may not be evident until later (NINDS, 2012). The diagnosis is almost always made by 10 years of age (NINDS, 2012). This article discusses a case of NF 1 encountered in a primary health care setting and the implications for care and treatment of this disease.
Abstract
Neurofibromatosis type 1 (NF 1) is a genetic disorder considered to have an autosomal-dominant pattern of inheritance that results in skin hyperpigmentation, bone malformation, and tumor formation in nerves and their associated tissues (National Institute of Neurological Disorders and Stroke [NINDS], 2012). The birth incidence of NF 1 is 1 in 2500, and the prevalence is about 1 in 4000 worldwide (Pasmant, Vidaud, Vidaud, & Wolkenstein, 2012). Mutations in the NF 1 gene along chromosome 17 result in production of ineffective neurofibromin, a protein that regulates cell growth and division (Genetics Home Reference [GHR], 2012; Pasmant et al., 2012). As a result, tumors form along the nerves of the body (GHR, 2012). Although some people inherit this altered gene, others may have a newly altered NF 1 gene and be the first person in their family to be affected with this condition (John Hopkins Medicine [JHM], n.d.). NF 1, which also is known as "von Recklinghausen disease," has gene mutations that may be present at birth, but physical manifestations, such as café au lait spots, may not be evident until later (NINDS, 2012). The diagnosis is almost always made by 10 years of age (NINDS, 2012). This article discusses a case of NF 1 encountered in a primary health care setting and the implications for care and treatment of this disease.