Proteus Syndrome: A Rare Disease of Disproportionate and Asymmetric Overgrowth of Connective Tissue

Abstract

Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the case of a 24-year-old female who was born with no obvious abnormality at birth. From the age of 1 year, she developed asymmetric enlargement of her left upper limb and bilateral lower limbs leading to enlargement of the right-hand phalanges with radial deviation, enlargement of the right big toe, lateral deviation of left foot, and discrepancy in the length of lower extremities and kyphoscoliosis. She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions.

Overgrowth syndromes, diagnosis and management

“…One exemplary illustration of this diagnostic approach is Proteus syndrome, which is characterized by progressive skeletal overgrowth with asymmetry, along with epidermal nevi and plantar cerebriform connective tissue nevi [5,6]. Similarly, Sotos syndrome is defined by symmetric overgrowth, distinctive dysmorphia including a long narrow face, sparse frontotemporal hair, and an elongated pointed chin, along with doughy skin and frontal bossing [7].…”