PROTEUS SYNDROME: A RARE DISEASE OF DISPROPORTIONATE AND ASYMMETRIC OVERGROWTH OF CONNECTIVE TISSUE

Authors

  • Fahad Qaisar Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur Pakistan
  • Nauman Ismat Butt Azra Naheed Medical College, Superior University Lahore Pakistan
  • Muhammad Sohail Ajmal Ghoauri Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur Pakistan
  • Madiha Azhar Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur Pakistan
  • Muhammad Umair Javed Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur Pakistan
  • Abdul Samad Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur Pakistan

DOI:

https://doi.org/10.55519/JAMC-01-11210

Keywords:

Proteus Syndrome, Skeletal Overgrowth, Disfigurement & Disability

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.

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Published

2023-01-16