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Acronym for lentigines (multiple), electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness (sensorineural). Complex congenital dysmorphogenetic disorder associating mainly skin lesions (lentigines), severe cardiac anomalies (dysrhythmias, pulmonary valve stenosis), ocular hypertelorism, abnormalities of genitalia, sensorineural deafness, and severe retardation of growth.

LEOPARD syndrome

Young girl with hypertelorism and multiple lentigines has LEOPARD syndrome. Note the scar from sternotomy for repair of severe right ventricular outflow tract obstruction.

Cardiocutaneous Syndrome; Cardiocutaneous Lentiginosis Syndrome; Cardiomyopathic Lentiginosis; Centrofacial Lentiginosis; Generalized Lentiginosis; Lentiginosis-Deafness-Cardiopathy Syndrome; Lentiginosis Profusa Syndrome; Moynahan Syndrome; Multiple Lentigines Syndrome; Progressive Cardiomyopathic Lentiginosis.

First described by Zeisler and Becker in 1936. It has many similarities to Noonan syndrome, except in the most striking features, from which its name is derived. The mnemonic was first used by Gorlin et al. in 1969.

Rare; slightly more than 80 cases reported. Life expectancy is normal.

Sporadic or autosomal dominant. Single mutant gene with high penetrance and variable expression produces the defects in this syndrome. Slight male predominance.

Mutation in the stem cell pool of the neural crest in embryonic life is regarded as a common cause of cutaneous (producing lentigines), neurologic, cardiac (resulting in cardiomyopathy), and possibly urogenital defects. Metabolism of dihydroxyphenylalanine (DOPA), epinephrine, and norepinephrine is altered, which may result in abnormal skin pigmentation.

Diagnostic criteria included skin lentigines plus two other recognized features or a first-degree relative with lentigines plus three other features in the patient. Histologic examination of the lentigines shows pigment accumulation in the dermis and in the deeper layers of epidermis. There is an increase in melanocytic density owing to corrugation of the dermoepidermal junction.

Lentigines (1-2 mm; flat, dark brown-to-black cutaneous lesions) can be present at birth and increase in number until puberty. They are most numerous on the face, neck, and upper trunk but spare the mucous membranes. Valvular pulmonary stenosis is the most common (40% of cases) cardiovascular abnormality. Hypertrophic obstructive cardiomyopathy is a major concern with onset usually in childhood. Subsequent progression may be mild and slow or severe and florid with rapid decompensation. Conduction abnormalities are common and result from combinations of blocks in the bundle branch system. These abnormalities may be asymptomatic or sufficiently severe to provoke sudden death. The conduction impairment develops gradually and is progressive. Ocular hypertelorism, mandibular prognathism, and short stature are the most common skeletal abnormalities. Pectus excavatum and carinatum are common, as is scoliosis (10% of cases). Sensorineural hearing loss may be severe and may appear late in life.

Echocardiographic examination to look for the presence of cardiomyopathy, pulmonary valve stenosis, and subaortic stenosis (with outflow tract obstruction) is mandatory. Evaluate pulmonary function (when feasible as a ...

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