Variability in the Michelin tire syndrome: A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q

摘要: We describe a 2½-year-old boy who has hirsutism and ringed creases of the extremities associated with an underlying smooth muscle hamartoma. Cutaneous findings in this child resemble those other reports "Michelin tire syndrome." Histologic examination showed numerous well-demarcated fascicles cells randomly distributed at all levels reticular dermis haphazard orientation. These were immunoreactive desmin, which confirmed their nature. In addition to skin changes, multiple unusual phenotypic anomalies, some have not previously been Michelin syndrome. include distinctive facial dysmorphia, submucous cleft palate, lateral clefting mouth, genital, dental anomalies. He also developed seizures age 2½ years moderate developmental delay. The patient his mother apparently identical paracentric inversions long arm chromosome 7 (46,XY,inv(7)(q22q31.3) no detectable loss or gain either chromosomal material DNA markers from cystic fibrosis (CFTR) region. relevance, if any, karyotype abnormality phenotype is discussed.