Disorders of pigmentation

Question 1

LEOPARD SYNDROME= NOONAN with multiple lentigines

Answer 1

LEOPARD SYNDROME = MULTIPLE LENITGINES SYNDROME = NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Epi
AD
PTPN11 - is one of the RASopathies; most common mutation is PTPN11 gene (90%)
Less common mutations in MAPK pathway (10%): BRAF and RAF1
M=F

Clinical
Lentigines at birth-first few mths
Multiple by 4-5yo

L – generalized lentigines 90% (upper half of body, palms/soles, sclera),not affected by the sun; sparing of MM), CALM, Café noir spots
E – ECG (conduction defects)
O – Ocular hypertelorism, triangular facies, low set ears
P – Pulmonary stenosis, aortic stenosis, obstructive cardiomyopathy
A – Abnormal genitals – hypospadias, cryptochidism
R – Retardation of growth, pectus exacavatum, carinatum
D – Deafness (sensorineural), rarely mild mental retardation.

Criteria
Lentigines + 2 other features
If no lentigines – 3 features + family hx

Ix
DNA analysis (if defect known)
Derm FSE
Paeds – height, weight, head circumference, developmental assessment/gen medical assessment
Cardiologist
Audiologist
Urologist

Screen 1st degree family members (AD)
Mx
Normal life spain (pulmonary stenosis rarely diabling)
Speech defects if deafness not diagnosed early)

isolated lentigines can be removed through the use of chemical peels, cryotherapy, laser treatments or surgical excision. For some patients, treatment with topical retinoids and hydroquinone cream may be helpful.

Multiple lentigines  ALWAYS SCREEN HEART
DDx
Carney complex,Peutz-Jeghers, Noonan, premature ageing and multiple nevi