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12 Cards in this Set

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Clinical LEOPARD Syndrome
Synonym
Multiple Lentigines Syndrome
Inheritance
Autosomal dominant; PTPN11 gene on 12q24
Prenatal
DNA analysis if defect known
Incidence
Over 70 cases reported; M = F
Age at Presentation
Lentigines begin at birth or first few months of life; abundant by 4 to 5 years old
Pathogenesis
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.
Clinical
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)
D/Dx
Carney Complex (p. 78) Peutz jeghers syndrome (p. 186) Noonan syndrome (p. 354) Premature aging and multiple nevi
Lab
Skin biopsy
Management
Thorough cutaneous examination by dermatologist Complete physical examination by primary care physician Referral to cardiologist, audiologist, urologist Evaluate first degree family member
Prognosis
Normal life span; pulmonic stenosis rarely disabling Speech difficulties secondary to deafness if not diagnosed early on