A Case of Disproportionate Macrodactyly or a Mild form of Proteus Syndrome? An Interesting Case

Abdullah, Shalimar; Haflah, Nor Hazla Mohd; Sapuan, Jamari; Das, Srijit

doi:10.14712/18059694.2016.85

Acta Medica > Archive > 2010, Vol. 53 > Issue 4 > A Case of Disproportionate Macrodactyly…

Acta Med. 2010, 53: 243-246

https://doi.org/10.14712/18059694.2016.85

A Case of Disproportionate Macrodactyly or a Mild form of Proteus Syndrome? An Interesting Case

Shalimar Abdullah^a, Nor Hazla Mohd Haflah^a, Jamari Sapuan^a, Srijit Das^b

^aNational University of Malaysia, Malaysia Medical Centre (UKMMC), Department of Orthopaedics, Malaysia
^bNational University of Malaysia, Malaysia Medical Centre (UKMMC), Department of Anatomy, Malaysia

Received May 16, 2009
Accepted October 23, 2010

We present a 20-year-old Malay male whom we believe has Proteus syndrome, a rare congenital disorder of asymmetrical overgrowth of body tissues. There are fewer than 100 confirmed cases reported worldwide thus the clinical presentation and histopathological findings are of significance. Our patient presented with an overgrown right small finger and subcutaneous purplish pigmentation over his left upper arm and chest since birth. His small finger gradually increased in size. He had no abnormalities in sensation or power. Radiographs revealed a delta shaped middle phalanx of the small finger. His activities of daily living were uninterrupted but he requested debulking surgery for cosmetic reasons. Histopathological examination reported hypertrophic fatty tissue composed of well formed lobules of mature adipocytes interspersed with fibrous elements.