Ann Dermatol.  2011 May;23(2):232-235. 10.5021/ad.2011.23.2.232.

LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

• Kim J
• Kim MR
• Kim HJ
• Lee KA
• Lee MG

• KMID: 2156671
• DOI: http://doi.org/10.5021/ad.2011.23.2.232

Abstract

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or cafe-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.

Keyword

LEOPARD syndrome; Multiple lentigines; PTPN11 gene

MeSH Terms

Cardiomyopathy, Hypertrophic
Deafness
Electrocardiography
Genitalia
Hearing Loss, Sensorineural
Hypertelorism
Lentigo
LEOPARD Syndrome
Panthera
Pulmonary Valve Stenosis

Figure

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  Fig. 1 (A) Numerous brownish macules on the face with ocular hypertelorism. (B) Low set, posteriorly rotated ears and mandibular prognathism.

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  Fig. 2 Twelve-lead EKG shows right-axis deviation, ST-segment abnormalities and T-wave inversion.

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  Fig. 3 Echocardiographic analysis showed hypertrophic obstructive cardiomyopathy with thickened interventricular septum and systolic anterior motion of the mitral valve leaflets.

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  Fig. 4 Histopathologic findings of pigmented macules revealed slight elongation of the rete ridges with increased melanocytes in the basal layer (H&E stain, ×100).

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  Fig. 5 Mutation analysis of PTPN11 gene revealed a missense mutation 836A→G in exon 7.

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