Neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. Additionally, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when prenatal diagnosis is desired. There are several disorders which may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed.

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

“…Gene and protein function NF1 is a large gene of 60 exons, located on chromosome 17q11.2 and encoding the protein neurofibromin (Boyd et al 2009). The gene was discovered in 1990 ) and has one of the highest spontaneous mutation rates in the human genome (Boyd et al 2009).…”

Neurofibromatosis type I and anti-phospholipid antibody syndrome: Report of one case

“…The diagnosis of NF1 relies on the presence of at least two of the following criteria: more than one fibroma on or under the skin or one plexiform neurofibroma (large cluster of fibromas involving multiple nerves), freckling of the groin or axilla, more than five CAL spots, skeletal abnormalities such as sphenoid dysplasia or thinning of long bone cortex, Lisch nodules (hamartomas) of the 1,7 . The diagnosis of NF1 in our patient relied on the presence of CAL spots on the left lower arm, fibromas on the left lower arm and the right knee, suspected fibromas on the right lumbar plexus, and the optic nerve glioma.…”

“…APS is characterized by thrombus formation in arteries and veins, manifesting clinically as deep venous thrombosis, ischemic stroke, miscarriage prior to the 10 th week of gestation, pre-eclampsia after the 20 th week of gestation, or stillbirth (Table 1) 9 . APS may be primary, without other concomitant disease, or secondary, if in conjunction with other autoimmune disorders 1,10 . The diagnosis in our patient was based on the history of two spontaneous abortions and the detection of a positive lupus anticoagulant She had no history of ischemic stroke but had developed myocardial infarction at age 38.…”

“…NF1 occurs with a prevalence of 1 in 4000-5000 individuals and manifests in the skin, bones, arteries, peripheral nerves and central nervous system (CNS) [1][2][3] . It has been repeatedly reported in association with other disorders, such as multiple sclerosis 4 , or malignancies 5 but NF1 in association with antiphospholipid syndrome (APS), as in the following case, has been described only twice 6 .…”

Personalized diagnostics of chromaffin tumors (pheochromocytoma, paraganglioma) in oncoendocrinology

“…новорожденных, с аутосомно-доминантным типом наследования, преимущественно пора жающее кожу и нервную систему. Диагноз в 95% случаев устанавливается до 11 лет на основании клинических проявле-ний заболевания: множественные нейрофи-бромы, пигментные пятна на коже цвета кофе с молоком, гамартомы радужной обо-лочки глаза -узелки Лиша, сколиоз, когни-тивные нарушения, опухоли зрительных нер вов и ЦНС (глиомы), лейкемия [36,37]. Ген NF1 с локализацией 17q11.2 кодирует белок нейрофибрин, экспрессируемый пре-имущественно в нервной системе и являю-щийся супрессором клеточной пролифера-ции посредством инактивации RAS-белков.…”