InforLorV4, Main, Exploration, bibRecord, 001E37

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

Identifieur interne : 001E37 ( Main/Exploration ); précédent : 001E36; suivant : 001E38

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

Auteurs : Juliette Piard [France] ; Alain Verloes [France] ; Hélène Cavé [France] ; Michel Peuchmaur [France] ; Selim Bennaceur [France] ; Bruno Leheup [France]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-06.

RBID : ISTEX:1AABFE41C99CE2E577CC4CC435C4CCF5FD49CADC

English descriptors

Teeft :
- Abdominal wall, Case report, Clinical report, Congenital intrahepatic portosystemic venous shunt, Cowden syndrome, Cubitus valgus, Epidermal nevus, Genet, Genet part, Germline mutations, Giant cell, Heterozygous mutation, Hypertrophic cardiomyopathy, Labiae majorae, Legius, Legius syndrome, Lentigo, Leopard, Leopard syndrome, Leopard syndromes, Lipoma, Lipomatosis, Medical genetics part, Multinucleated giant cells, Multiple giant cell lesions, Multiple lipomas, Multiple spots, Mutation, Noonan, Noonan lentigines, Noonan syndrome, Online version, Pathway, Pleomorphic lipoma, Possible relationship, Proteus syndrome, Pten, Pulmonary stenosis, Robert debr, Segmental overgrowth, Short neck, Solid tumors, Spindle cells, Syndrome, University hospital, Virchows arch, Wiley periodicals.

Abstract

Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1–3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non‐malignant tumors. We report on a 26‐year‐old female with features of Noonan syndrome–Multiple Lentigines and a heterozygous mutation: c.1517A > C–p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS. © 2012 Wiley Periodicals, Inc.

Url:

https://api.istex.fr/ark:/67375/WNG-ZRCGV3QZ-N/fulltext.pdf

DOI: 10.1002/ajmg.a.35329

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1–3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non‐malignant tumors. We report on a 26‐year‐old female with features of Noonan syndrome–Multiple Lentigines and a heterozygous mutation: c.1517A > C–p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS. © 2012 Wiley Periodicals, Inc.</div>
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Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

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English descriptors

Abstract

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