title: LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
abstract: LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features, however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease.
authors.affiliation: Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, España.
authors.forename: T T
authors.initials: TT
authors.lastname: Ramos-Geldres
authors.affiliation: Dermatology and Venereology Department, Umeå University Hospital, Umeå (Suecia).
authors.forename: P
authors.initials: P
authors.lastname: Dávila-Seijo
authors.affiliation: Servicio de Neurología, Hospital Infantil del Niño Jesús, Madrid, España.
authors.forename: A
authors.initials: A
authors.lastname: Duat-Rodríguez
authors.affiliation: Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, España.
authors.forename: L
authors.initials: L
authors.lastname: Noguera-Morel
authors.affiliation: Laboratorio de Diagnóstico Molecular, Hospital Materno Infantil, Hospital Universitario Gregorio Marañón, Madrid, España.
authors.forename: B
authors.initials: B
authors.lastname: Ezquieta-Zubicaray
authors.affiliation: Servicio de Dermatología, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: E
authors.initials: E
authors.lastname: Rosón-López
authors.affiliation: Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, España. Electronic address: ahernandez_hnj@yahoo.es.
authors.forename: A
authors.initials: A
authors.lastname: Hernández-Martín
authors.affiliation: Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, España.
authors.forename: A
authors.initials: A
authors.lastname: Torrelo-Fernández
mesh_terms: D002648:Child; D005091:Exons; D034381:Hearing Loss; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000172:deficiency* / Q000235:genetics; D011666:Pulmonary Valve Stenosis; D063189:Symptom Assessment
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Cafe au lait macules; LEOPARD syndrome; Lentigines; Manchas café con leche; Rasopathy; Rasopatia; Sindrome LEOPARD