Which physical findings are characteristic of LEOPARD syndrome (lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness syndrome)?

Updated: Feb 23, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Answer

LEOPARD syndrome (lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness syndrome) (ie, multiple lentigines syndrome) is a complex dysmorphogenetic disorder that is transmitted as an autosomal-dominant trait with variable penetrance. A mutation of the PTPN11 gene may be documented. [25] The diagnosis can be difficult because most patients have only 3-5 of the criteria. Lentigines are the most common feature of the syndrome, although they do not have to be present to diagnose LEOPARD syndrome.

In the absence of lentigines, the diagnosis can be made if the patient has 3 features of the disease and an immediate relative with the disease. Lentigines are present at birth and increase in number until puberty. The intensity of the pigmentation varies. The lesions are numerous on the neck and trunk, but they can also be widespread and involve the genitalia, palms, soles, and scalp. Lentigines spare some parts of the face and may be limited to one side of the body in some cases.


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