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 (rat sarcoma mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormaliti...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas (English ed.) 2015-05, Vol.106 (4), p.e19-e22
Main Authors: Ramos-Geldres, T.T, Dávila-Seijo, P, Duat-Rodríguez, A, Noguera-Morel, L, Ezquieta-Zubicaray, B, Rosón-López, E, Hernández-Martín, A, Torrelo-Fernández, A
Format: Article
Language:English
Subjects:
Cafe au lait macules
Child
Dermatology
Exons
Hearing Loss
Humans
Internal Medicine
Lentigines
LEOPARD syndrome
LEOPARD Syndrome - genetics
Male
Manchas café con leche
Mutation, Missense
Phenotype
Point Mutation
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - deficiency
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
Pulmonary Valve Stenosis
Rasopathy
Rasopatia
Sindrome LEOPARD
Symptom Assessment
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Summary:Abstract LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS -MAPK (rat sarcoma 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.
ISSN:1578-2190
2173-5778
1578-2190
DOI:10.1016/j.adengl.2015.03.006