Leopard Syndrome

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Clinical LEOPARD Syndrome

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Synonym

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Multiple Lentigines Syndrome

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Inheritance

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Autosomal dominant; PTPN11 gene on 12q24

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Prenatal

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DNA analysis if defect known

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Incidence

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Over 70 cases reported; M = F

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Age at Presentation

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Lentigines begin at birth or first few months of life; abundant by 4 to 5 years old

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Pathogenesis

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A mutation in PTPN11, a gene encoding the nonreceptor protein tyrosine phosphatase SHP2 and implicated in Noonan syndrome, has been isolated in nine patients evaluated with the LEOPARD phenotype.

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Clinical

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Skin
Generalized multiple Lentigines; mucous membranes spared CAFÉ noir spots Café au lait spots

Cardiovascular Electrocardiographic (ECG) conduction defects Pulmonic stenosis, aortic stenosis, obstructive cardiornyopathy

Craniofacial
Ocular hypertelorism; Triangular facies

Genitourinary
Abnormal genitalia hypospadias, cryptorchiclism

Musculoskeletal
Growth Retardation; Pectus excavaturn or carinaturn

Central Nervous System Sensorineural Deafness Mild mental retardation (rare)

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D/Dx

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Carney Complex (p. 78) Peutz jeghers syndrome (p. 186) Noonan syndrome (p. 354) Premature aging and multiple nevi

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Lab

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Skin biopsy

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Management

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Thorough cutaneous examination by dermatologist Complete physical examination by primary care physician Referral to cardiologist, audiologist, urologist Evaluate first degree family member

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Prognosis

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Normal life span; pulmonic stenosis rarely disabling Speech difficulties secondary to deafness if not diagnosed early on