Proteus syndrome with infantile myofibromatosis and severely disturbed adipose growth and differentiation. A.L. Shanske1, H. Kang1, R.J. Shprintzen2, J. Goodrich1, R. Marion1. 1) Ctr Congenital Disorders, Montefiore Medical Ctr, Bronx, NY; 2) Communications Disorders Unit, State University of New York Health Sciences Center, Syracuse, NY.
Proteus syndrome was first described in 1979 as a complex hamartomatous disorder including partial gigantism and asymmetry of the limbs and various neoplasms. The most commonly observed tumors have been subcutaneous hemangiomas, lymphangiomas and lipomas. The overgrowth and neoplastic changes observed in these patients are thought to result from mosaicism for a dominant lethal gene. We have had the opportunity to evaluate a 7 year old girl with this disorder with an unusual course including a previously unreported neoplasm.
JM was the 8 pound product of a term pregnancy. Two large masses were excised at 2 weeks of age from her chest and abdomen. The histology was consistent with infantile myofibromatosis. Facial asymmetry was apparent by 2 months of age and she developed a partial complex seizure disorder at 4 months. Imaging studies showed a right posterior abnormality consistent with cerebral dysplasia or a prenatal infarct with an associated volume loss. The facial asymmetry progressed to hemiatrophy of the right calvarium down to the right lower jaw. She underwent craniofacial reconstruction at one year with multiple osteotomies and recontouring of the orbital rim and correction of orbital dystopia. She has also had strabismus repair and repair of a left cavovarus foot deformity. Her physical examination at the present time reveals a number of additional significant findings including obesity, overgrowth of the right foot, port-wine stain of the right cheek and chest, acanthosis nigricans, and lipodystrophy of the back.
Our patient fulfills the recently published consensus diagnostic criteria for the Proteus syndrome (Am J Med Genet 84:389-95, 1999). In addition, she has had a rare pediatric tumor which has not been previously reported in association with Proteus syndrome and more extensive signs of disturbed adipose growth and differentiation including decreased subcutaneous tissue, obesity and acanthosis nigricans.