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LEOPARD syndrome (Pathology Acronym)

Dr Sampurna Roy MD                           May 2016

 

 


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LEOPARD syndrome is a rare multiple congenital disorder, mainly characterized by skin, facial and cardiac anomalies.

The acronym LEOPARD was coined by Gorlin et al. and is associated with numerous lentigines. 

The most common cardiac malformations are ventricular septal hypertrophy and pulmonary (or subpulmonary) stenosis which may be associated with a progressive (obstructive) cardiomyopathy and abnormal ECG findings. 

           

                                                       

                                    

                       clipartlord.com                        

 

L =  Multiple Lentigines

E =  ECG Conduction Abnormalities

O =  Ocular Hypertelorism

P Pulmonic Stenosis

A  =  Abnormal Genitalia

R =  Retardation of Growth

D =  Deafness

 

The clinical suspicion of LEOPARD syndrome may be confirmed by molecular screening for PTPN11 mutations.

An early diagnosis of the disease is useful for the care of associated medical problems and for genetic counseling.

 

Further reading:

The Leopard (multiple lentigines) syndrome revisited.

Leopard syndrome.

Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures.

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

 

"A leopard does not change his spots, or change his feeling that spots are rather a credit. Ivy Compton-Burnett"

 

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Dr  Sampurna Roy  MD

Consultant  Histopathologist (Kolkata - India)

 

                                                                                                         


 

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