LEOPARD Syndrome

Specific Characteristics

Lentigines on a female Caucasian woman.

• ·      Autosomal dominant genetic disorder
• ·      Also known as multiple lentigines syndrome
• ·      Lentigines, dark brown string-like spots, cover the skin

Causes

• ·      Caused my mutations in the PTPN11 and RAEF1 genes.
• ·      50% chance on an affected parent passing the disease on to her offspring.

Signs and Symptoms

• ·      Lentigines; numerous black or dark brown spots, in varying lengths and shapes, on the skin
• ·      Electrocardiographic conduction defects; irregular electric impulses from the heart. Severe cases can result in fainting episodes, seizures, etc.
• ·      Ocular hyperterlorism; anatomical malfunctions in the formation of the head and facial areas
• ·      Pulmonary stenosis



Pulmonary Stenosis


• ·      Abnormalities of the genitals. Males experience unusual acuteness of the penis and/or failure of one or both testes. Females will experience underdeveloped or even absent ovaries.
• ·      Retarded growth; stunt in bone growth and/or growing of a bone down the chest’s center.

 

Diagnosis

• ·      Pale or tan discolorations of the skin at birth.
• ·      A parent or sibling has multiple lentigines.
• ·      X-ray and electrocardiography (EKG) exams will show internal birth defects in skeletal and electric impulses.

Treatment

• ·      Surgery, depending upon the location and severity of the affected areas.
• ·      Treatment, depending on the severity of the condition, not always necessary.
• ·      Hormone injections for affected individuals with abnormalities in genitals.
• ·      Hearing aids and speech therapy for affected individuals with damaged hearing.

References

Multiple lentigines syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved September 13, 2013, from http://ghr.nlm.nih.gov/condition/multiple-lentigines-syndrome

Pulmonic Stenosis. (n.d.). Home. Retrieved September 13, 2013, from http://www.marvistavet.com/html/pulmonic_stenosis.html

rare-diseases — National Organization for Rare Disorders. (n.d.). Welcome to NORD — National Organization for Rare Disorders. Retrieved September 13, 2013, from http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/718/viewFullReport