General
LEOPARD syndrome (also cardiocutaneous syndrome, Gorlin syndrome II) is a rare autosomal dominant inherited disorder. It is a multisystem disease affecting several organ systems.
This condition is caused by a mutation in the PTPN11 gene. The name of the disorder is derived from its clinical manifestations. It was first named in 1969.
The symptoms are highly variable, both in type and in severity.
Diagnosis and Treatment
The presence of the disorder is confirmed by genetic testing and by the clinical symptoms.
Treatment is only symptomatic and tailored individually for each affected person. The condition is not life-threatening; however, it is important to monitor these patients in specialized medical clinics in order to detect possible severe organ involvement. Social and psychological support for the patient and family is also important.
- reddish-brown to dark brown spots on the skin
- lesions usually occur in large numbers and may involve up to 80% of the body surface
- lesions may also occur on the mucous membranes of the oral cavity
- the spots have irregular borders
- in some areas of the skin, regions of reduced pigmentation may also be observed
- cardiac arrhythmias and abnormalities on ECG
- structural heart changes – hypertrophic obstructive cardiomyopathy with resulting syncope, collapse, and arrhythmias
- malocclusion (prognathism/overbite)
- pulmonary artery stenosis
- undescended testes
- growth delay, short stature
- hearing loss
- mild intellectual disability
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