This 6-year-old girl is the third child of a healthy 42-year-old woman and a non-consanguineous 52-year-old healthy man, whose family history was unremarkable. She was conceived naturally. She was born at term after a normal pregnancy: her fetal ultrasound scans were normal. Birth weight was 3.800 g (75th centile), length 51 cm (75th centile), and head circumference 36 cm (75th centile). At birth, macrodactyly of the I and II toe of the left foot with partial syndactyly between the 2nd and 3rd toes was recorded. Based on these clinical data, she was suspected to have Proteus syndrome. At the age of 1 month, a subcutaneous mass in her left abdominal region was observed. General physical examination at age 2 months showed that her weight was 5600 g (90th percentile), length 56 cm (50th percentile), and head circumference 38.5 cm (50th percentile). She presented macrodactyly of the I and II toes of the left foot with increased growth of the left leg and a subcutaneous mass in the left abdominal region; magnetic resonance imaging (MRI) of the abdomen revealed that the mass was compatible with a subcutaneous lipoma, which was later confirmed by histological examination of a sample of biopsied tissue. The girl was first referred to one of our institutions at age 4 months and followed up at age 9 months, 3 years and 10/12 months, and 5 years; she is still under follow-up at our institutions. Cognitive development is normal. During her last diagnostic work-up and follow-up controls, she underwent surgery for reduction of the abdominal mass and for removal of the first toe and transposition of the second toe to replace the first toe. Skin biopsies from the affected (and unaffected contralateral) regions were obtained during these procedures (Fig. a).
A 10-year-old female had complained of pain in the left thigh since she was 6-year-old. She had no significant prior medical or surgical history. Both axial T2-weighted Magnetic resonance imaging (MRI) and coronal fat-saturated enhanced T1-weighted MRI revealed heterogenous hyperintense within the skeletal muscle (Fig. a, b). The clinical diagnosis was VM. Restriction of the knee joint gradually appeared. Although sclerotherapy was attempted, no benefit was obtained. Additional ultrasonographic examination imaging showed an ill-defined hyperechoic intramuscular solid mass. Needle biopsy was performed, and VM was diagnosed. Then, surgical resection was performed.