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
Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, España.
Dermatology and Venereology Department, Umeå University Hospital, Umeå (Suecia).
Actas Dermosifiliogr. 2015 May;106(4):e19-22. doi: 10.1016/j.ad.2014.11.004. Epub 2014 Dec 24.
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.
豹皮综合征是一种由RAS-MAPK（丝裂原活化蛋白激酶）途径中的种系突变引起的常染色体显性疾病。LEOPARD是该综合征主要表现的首字母缩写，即多发雀斑、心电图传导异常、眼距增宽、肺动脉狭窄、生殖器异常、生长发育迟缓以及感音神经性耳聋。然而，这些特征均非豹皮综合征所特有，而且由于其表现高度多变，在诊断时往往并不都存在。我们描述了2例无听力丧失或肺动脉狭窄的豹皮综合征病例，通过鉴定PTPN11基因中的突变确诊。定期监测对于早期发现并发症很重要，因为这些并发症可能在疾病过程中的任何时候出现。
