Sequence analysis of NF1 genomic DNA ( gDNA) and/or cDNA (complementary DNA, copied from mRNA) is performed in association with gene-targeted deletion analysis. If the phenotypic findings suggest the diagnosis of NF1, single- gene testing may be considered. Many clinical features of NF1 increase in frequency with age, and some individuals who have unequivocal NF1 as adults cannot be diagnosed in early childhood, before these features become apparent. Some individuals diagnosed with NF1 based on clinical criteria do not have a pathogenic variant detectable by current technology. Negative NF1 molecular testing does not rule out a diagnosis of NF1. The criterion is not met by identification of an NF1 variant only in tumor tissue or identification of a germline likely pathogenic variant or variant of uncertain significance. 4.Ī germline NF1 pathogenic variant must be identified for genetic testing to serve as a criterion for diagnosis. Sphenoid wing dysplasia is not a separate criterion in those with ipsilateral orbital plexiform neurofibromas.
A diagnosis of mosaic NF1 should be considered if such lesions are present only on one side or in one segment of the body.
2.ĬALMs, intertriginous freckling, cutaneous neurofibromas, and Lisch nodules are usually bilateral in NF1. Moreover, Legius syndrome is much rarer than NF1, and children with Legius syndrome almost always have an affected parent with only CALMs and intertriginous freckling (see Differential Diagnosis).
#SEASHORE EARLY CHILDHOOD ACADEMY SKIN#
Ībout half of individuals with Legius syndrome (see Differential Diagnosis) have skin pigmentary features that meet the diagnostic criteria of NF1 (i.e., ≥6 CALMs and axillary or inguinal freckling), but individuals with Legius syndrome do not have neurofibromas, optic pathway gliomas, Lisch nodules, or typical osseous lesions of NF1. The diagnosis of NF1 is established in a proband with two or more of the features described in Suggestive Findings. Individuals with NF1 whole- gene deletions, large or growing plexiform neurofibromas or intracranial tumors, symptomatic vascular disease, progressive osseous lesions, or other serious disease manifestations require more frequent targeted follow up. Begin annual mammography in women at age 30 years with consideration of annual breast MRI in women between ages 30 and 50 years. Surveillance: Annual physical examination by a physician familiar with the disorder ophthalmologic examination annually in children, and regularly but less frequently in adults developmental assessment of children regular blood pressure monitoring MRI for identification and follow up of clinically suspected intracranial or other tumors that are not apparent on physical examination. Individualized developmental and educational interventions may be beneficial, and methylphenidate treatment often benefits individuals with attention-deficit/hyperactivity disorder. Dystrophic scoliosis often requires surgical management, whereas nondystrophic scoliosis can usually be treated conservatively. Treatment of optic gliomas is generally unnecessary as they are usually asymptomatic and clinically stable. Complete surgical excision, when possible, of malignant peripheral nerve sheath tumors is the treatment of choice chemotherapy may be beneficial in some individuals. Surgical treatment of diffuse or large plexiform neurofibromas is possible but may be associated with damage to involved nerves or adjacent tissues and stimulate growth of residual tumor. Treatment of manifestations: Referral to specialists for treatment of abnormalities of the eye, central or peripheral nervous system, cardiovascular system, lungs, endocrine system, spine, or long bones surgical removal of disfiguring or uncomfortable discrete cutaneous or subcutaneous neurofibromas.
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