LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
Hussein Mesfer AlshamraniLuai M AssaediJumanah A BahattabAbdulrahman M MohammadMagdy R AbdulghaniPublished in: Case reports in dermatological medicine (2023)
LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 ( PTPN11 ) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.