Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Journal of Medical Genetics
Erin ConboyD Babovic-Vuksanovic

Abstract

Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and deafness. There is significant clinical overlap between NSML and other disorders that result from dysregulated rat sarcoma/mitogen-activated protein kinase pathway (RASopathies). Except for neurofibromatosis type 1, other RASopathies are not known to be typically associated with neurogenic tumours. We evaluated patients from three families with pigmentary skin lesions, progressive neuropathy, enlarged nerves, massive burden of paraspinal tumours (neurofibroma was confirmed in one patient) and a clinical diagnosis of NSML. All patients had a mutation in the protein tyrosine phosphatase catalytic domain of the PTPN11 gene; two unrelated patients had the p.Thr468Met mutation, while the family consisting of two affected individuals harboured the p.Thr279Cys mutation. Molecular analysis performed on hypertrophic nerve tissue did not disclose a second somatic hit in NF1, PTPN11, NF2 or SMARCB1 genes. Neurogenic tumours and hypertrophic neuropathy are unusual complications of NSML and may...Continue Reading

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May 31, 2016·European Journal of Medical Genetics·Henk van den BergJan de Lange
Mar 8, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Kelly K Koeller, Robert Y Shih
May 11, 2020·Journal of Neuropathology and Experimental Neurology·M Adelita VizcainoFausto J Rodriguez
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Mar 10, 2016·American Journal of Medical Genetics. Part a·Claire MaridetAlain Taieb
Mar 7, 2021·European Journal of Medical Genetics·Leoni ChiaraZampino Giuseppe

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