Patient with confirmed LEOPARD syndrome developing multiple melanoma

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctiv...

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Autores principales:	Colmant Caroline, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
Formato:	article
Lenguaje:	EN
Publicado:	Mattioli1885 2018
Materias:	LEOPARD syndrome melanomas dermoscopy Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/b3109e52724f49668c5c3125e73dddd1
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spelling	oai:doaj.org-article:b3109e52724f49668c5c3125e73dddd12021-11-17T08:30:21ZPatient with confirmed LEOPARD syndrome developing multiple melanoma2160-9381https://doaj.org/article/b3109e52724f49668c5c3125e73dddd12018-01-01T00:00:00Zhttp://dpcj.org/index.php/dpc/article/view/384https://doaj.org/toc/2160-9381 LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis. Colmant CarolineDeborah FranckLiliane MarotGert MatthijsYves SznajerSandrine BlommeIsabelle TrommeMattioli1885articleLEOPARD syndromemelanomasdermoscopyDermatologyRL1-803ENDermatology Practical & Conceptual, Vol 8, Iss 1 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	LEOPARD syndrome melanomas dermoscopy Dermatology RL1-803
spellingShingle	LEOPARD syndrome melanomas dermoscopy Dermatology RL1-803 Colmant Caroline Deborah Franck Liliane Marot Gert Matthijs Yves Sznajer Sandrine Blomme Isabelle Tromme Patient with confirmed LEOPARD syndrome developing multiple melanoma
description	LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.
format	article
author	Colmant Caroline Deborah Franck Liliane Marot Gert Matthijs Yves Sznajer Sandrine Blomme Isabelle Tromme
author_facet	Colmant Caroline Deborah Franck Liliane Marot Gert Matthijs Yves Sznajer Sandrine Blomme Isabelle Tromme
author_sort	Colmant Caroline
title	Patient with confirmed LEOPARD syndrome developing multiple melanoma
title_short	Patient with confirmed LEOPARD syndrome developing multiple melanoma
title_full	Patient with confirmed LEOPARD syndrome developing multiple melanoma
title_fullStr	Patient with confirmed LEOPARD syndrome developing multiple melanoma
title_full_unstemmed	Patient with confirmed LEOPARD syndrome developing multiple melanoma
title_sort	patient with confirmed leopard syndrome developing multiple melanoma
publisher	Mattioli1885
publishDate	2018
url	https://doaj.org/article/b3109e52724f49668c5c3125e73dddd1
work_keys_str_mv	AT colmantcaroline patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT deborahfranck patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT lilianemarot patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT gertmatthijs patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT yvessznajer patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT sandrineblomme patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma AT isabelletromme patientwithconfirmedleopardsyndromedevelopingmultiplemelanoma
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Patient with confirmed LEOPARD syndrome developing multiple melanoma

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