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Multiple circumferential skin creases: Another sign of genetic mosaicism?

Multiple circumferential skin creases is a relatively rare disorder (OMIM 156610). The pathogenesis of this disorder is currently not known, but the recurrent finding of a nevus lipomatosus or a smooth muscle hamartoma detected in several individuals suggests that the skin folds may be secondary to an excessive proliferation of subcutaneous tissue, differentiating as fat or smooth muscle cells [reviewed by Schnur et al., 1993]. In other patients, no histological abnormalities were found, indicating the presence of abundant but otherwise normal connective tissue and epidermis [Burgdorf et al., 1982]. The cause of this localized connective tissue hyperplasia is not known. Besides a few instances of isolated circumferential skin folds, most cases have additional major malformations and/or minor anomalies [reviewed by Schnur et al., 1993; Sardana et al., 2003]. Similarities among some reported cases has lead some authors to suggest that there is a distinct, recognizable syndrome featuring circumferential skin folds [Kondoh et al., 2003], but strong evidence is lacking. Rather, it appears that circumferential skin folds are a distict clinical feature, but with different causes. We would like to add our experience on long term follow-up of a child presenting at birth with this condition, and illustrate that circumferential skin folds may be a sign of genetic mosaicism. This boy is the first child of healthy, unrelated parents. Family history is unremarkable. Pregnancy conceived after ICSI, was normal, except for elevated maternal serum aFP at 15 weeks (83.4) 2.92 MOM). He was born at 37 weeks of gestation with weight 2.4 kg (10–25th centile), length 48.5 kg (50–75th centile), and head circumference 33 cm (25–50th centile). A grade IV hypospadias was noted, and a renal ultrasound was normal. Multiple ring-shaped skin creases were observed on the four limbs (Fig. 1). On the dorsal side of the right leg, a discontinuous nevus flammeus was noted, extending from the ankle to the gluteal region (Fig. 1). In the right calve, an irregular and soft subcutaneous mass of approximately 3–1.5 cm was felt. On ultrasound, a diffuse hypertrophy of connective tissue was seen, but no localizedmass. He had a preauricular pit on the right side, and an atrial septal defect type II, which closed spontaneously. During follow-up, a difference in leg circumference was noted over time, whereas length of both legs was the same. At age 10 months, Doppler