Proteus syndrome

A 7-year-old girl presented with a history of wine-colored tumoral lesions on her leg, right foot, abdomen, and back, present since birth. They bled e asily on touch or on minimal trauma. Soft, skin-colored tumors were also pr esent on the pectoral and left axillary regions. All the lesions had increa sed in size gradually. Also, since birth, she had suffered from progressive enlargement of the feet, in the form of edema. The edema was soft and cold and did not decrease with rest. Over the last 5 years, the feet had been p ainful while walking. The lesions were pruritic on the legs. She had presen ted with pain, local heat, erythema, and an odiferous secretion on the peri ungual margins of both feet over the last year. Her mother reported that th e patient presented occasional blood streaks in her stools. The patient was born by cesarean section, due to polyhydramnios. Her psychomotor developme nt and school life were normal, except for a delay in walking (2 years). At the age of 2 years, tumors were excised from the right popliteal and axill ary regions. She received blood transfusions six times, because of a persis tent anemia. There was no family history of similar tumoral lesions. On physical examination at the first evaluation, she had violet-red maculae , with scattered small papules inside, located on the abdomen, left flank, and right leg (Fig. 1). A 12 x 6 x 4-cm tumor, which was soft, mobile, and slightly painful on palpation, was located on the right side of the back (F ig. 2). Another verrucous tumor with an irregular surface was located on th e distal third portion of the left leg. Papillomatous and exophytic lesions with an irregular surface were found on the left axilla (Fig. 3) and peria nal region. There were brown plaques with a rough surface distributed in lo ngitudinal bands from the left hand, through the left arm to the left anter ior-posterior side of the trunk, and on the left leg (Fig. 1). A keloid sca r was located on the right popliteal region. Multiple skin-colored papules with a rough surface, were scattered over the thighs. On the fingernails of the left hand, the first four fingers had dystrophic nails, inversion of d istal curvature, longitudinal streaks, and grayish pigmentation. On the fee t, there was soft, white, cold, and depressible edema, with toes that were hypertrophic and increased in length. The first toes had periungual swollen and painful margins. Diminished muscular trophism prevailed on the arms. S he had syndactyly of the second and third toes of the right foot, and third and fourth toes of the left foot (Fig. 4). On the external genitals, there was a wine-colored exophytic lesion on the labia minor. There was dorsal-l umbar scoliosis and varicose veins on the right leg. The clinical examination did not show any other significant findings. The o phthalmologic evaluation and coagulation profile were normal. Computerized cerebral tomography showed no pathologic findings. Echocardiography was nor mal. X-Ray of the feet showed a marked increase in volume of the soft parts , with elongated deformation of the osseous metaphysis and phalanges, and f usion of the third and fourth toes on the left foot. X-Ray of the spine sho wed dorsal-lumbar scoliosis, bifid spine on L4-L5 and S1. X-Ray of the skul l showed normal sellae. Abdominal sonogram showed no alteration. Doppler of the legs showed multiple aberrant vessels in areas of angiomas. A sonogram of the right dorsal tumor showed multiple cystic formations, some with ane cogenic contents. A Doppler of these areas showed absence of vascular flow, leading to the conclusion of a lymphangioma. Thoraco-abdominal magnetic re sonance showed thickening of the right posterior-lateral area at the expens e of subcutaneous cellular tissue. Between the skin and costal wall, with a thickness of 2.5 cm and a diameter of approximate to 15 cm, this area was composed of multiple cystic structures, suggesting a lymphangiolipomatous c omponent. Neither the intraabdominal organs nor the retroperitoneal organs were involved. Radionuclear phlebography showed a large irregularity in the deep veined system, with the prevalence of collaterals and a dilation area on the thigh and left leg; on the right lower leg, there was a flow stoppa ge, with the appearance of collateral circulation, probably due to agenesis of the femorals. Pulmonary perfusion gammagraphy was normal. The biopsies taken showed lymphangioma on the right leg, angiokeratoma on the left axill a, and verrucous nevus on the left leg.