Michelin tire baby syndrome

Michelin Tire Baby Syndrome, also known as congenital diffuse lipomatosis, is characterized by multiple, symmetric, circumferential skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. They are reminiscent of these of the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects. It was originally described by Ross in 1969. 20 cases of this hamartomatous disorder have been reported.

Cases of Michelin Tire Baby Syndrome Niikawa et al. (1985) reported 2 families with this syndrome. In the first family the trait occurred in 3 generations. The proband, a 3-year-old girl, had deep skin folds, gyrus-like on the back and circumferential in the limbs bilaterally. Her father and maternal grandmother had several skin creases around the wrists and forearms which they claimed were remnants of deep skin folds in infancy. In the second family a 5-year-old boy and his 10-month-old brother were affected. The parents were normal; it was unknown whether they had excessive skin folds in infancy. Kunze and Riehm (1982) reported the same disorder in 2 families: in 1, a father and his son with cleft palate and localized neuroblastoma, and in the other, a father and his 2 daughters (1 with median cleft palate). The creases disappeared almost completely in later life. Multiple benign, deep, ring-shaped creases were observed in a third family, possibly as a new dominant mutation. Ross (1969) concluded that in his patient a diffuse underlying lipomatous nevus was present. Wiedemann (1987) pictured an infant with multiple benign circumferential skin creases in association with a congenital heart defect. He also called attention to the demonstration of this feature in a representation of Eve nursing her son in a detail of a bronze door at the cathedral of Hildesheim in northwestern Germany. Bass et al. (1993) described the disorder in 7 individuals in 4 generations with 3 instances of male-to-male transmission. The constricting bands were distributed symmetrically and circumferentially over the neck, forearms, and lower legs. Spontaneous resolution took place during childhood.

In a karyotypically abnormal child with multiple anomalies, mental retardation, hypertrichosis, and circumferential ringed creases, Schnur et al. (1993) found an underlying smooth muscle hamartoma in a skin biopsy of 1 of the creases. The same histologic pattern was documented in 4 other children with circumferential skin creases described in 4 separate reports, e.g., Oku et al. (1993). Schnur and Zackai (1997) pointed out that the developmentally delayed, although cytogenetically normal child reported by Pivnick et al. (1996) showed ringed creases of the extremities in published photographs and had demonstrated smooth muscle hamartoma described histologically. Schnur and Zackai (1997) suggested that both karyotype and skin biopsy be performed in children with ringed skin creases, with and without other anomalies.

In describing a 15-month-old girl with this syndrome, Sato et al. (1997) raised the question of a congenital disorder of elastic fiber formation in this condition. Histologic examination showed fragmented elastic fibers, in addition to smooth muscle hamartoma. On electron microscopy, decreased deposition of elastin was observed.

Elliott et al. (1996) suggested that the patient reported with circumferential skin creases by Cohen et al. (1993) may have had a distinct syndrome because of an unusual pattern of associated congenital anomalies and severe psychomotor retardation. The 4-year-old male had craniofacial anomalies, cleft palate, hypoplastic scrotum, inguinal and umbilical hernias, and other abnormalities.

Leonard (2002) reported a case similar to that reported by Cohen et al. (1993) and Elliott et al. (1996). The patient was a 29-month-old boy with symmetrical circumferential skin creases on the arms, legs, and digits, and other features, including epicanthal folds, microphthalmia, microcornea, microcephaly, small and low-set posteriorly angulated ears with thick overfolded helices, cleft palate, and moderate to severe psychomotor developmental delay.

Kondoh et al. (2004) described a 3-year-old boy with circumferential skin creases as seen in this disorder, hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed 'degenerative collagen.' Kondoh et al. (2004) suggested that the patient of Elliott et al. (1996) and their patient had a distinct disorder which they suggested be called HITCH syndrome for 'hearing impairment, undescended testis, circumferential skin creases, and mental handicap.'

Devriendt et al. (2004) described their experience on long-term follow-up of a child presenting at birth with multiple circumferential skin creases, and suggested that these may be a sign of genetic mosaicism. The patient had mixoploidy with diploidy/triploidy mosaicism. The patient also had linear skin hyperpigmentation and limb asymmetry as well as nevus flammeus on one leg and grade IV hypospadias.

References
 * 1) Ross CM: Generalized folded skin with an underlying lipomatous nevus: "The Michelin tire baby." Arch Dermatol 1969;100:320
 * 2) Schnur RE, Herzberg AJ, Spinner N, et al: Variability in the Michelin tire syndrome: A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. J Am Acad Dermatol 1993;28:364
 * 3) Schnur RE, Zackai EH: Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis? (Letter) Am J Med Genet 1997;69:221
 * 4) Pivnick EK, Wilroy RS, Martens PR, et al: Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome? Am J Med Genet 1996;62:386
 * 5) Oku T, Iwasaki K, Fujita H: Folded skin with an underlying cutaneous smooth muscle hamartoma. Brit J Dermatol 1993;129:606