CASE REPORT of 2 year old female child with Proteus Syndrome (PS)

Abstract

Proteus syndrome is a rare genetic disorder, characterised by overgrowth of various tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric. Proteus syndrome is a result of mutation in the AKT1 gene. The overgrowth becomes apparent between the age od 6 and 18 months. Progressive skeletal malformations, bullous pulmonary disease, tumors, vascular malformations and skin diseases are reported. Our patient is 2 years old female, hospitalized in our clinic with suspicion for PS. The child had pain and clinically noted localized tumor in the right axillary and partial pectoral region, with painful and restricted ROM in the right shoulder. We also noticed changes on the left forearm, and on the left small fingers, without local od systematic sings of inflammation. We made surgical excision of the soft overgrowth tissue od pectoral-axilary region. The patohistological result we got was fatty tissue. We find this case interesting to show for it is very rare genetic condion with an incidence less then 1 in 1 milion people world wide.