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12 Cards in this Set
- Front
- Back
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
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