Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?

Schnur, Rhonda E.; Zackai, Elaine H.

doi:10.1002/(sici)1096-8628(19970317)69:2<221::aid-ajmg22>3.0.co;2-m

Cited by 7 publications

(7 citation statements)

References 6 publications

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“…This would also explain the localized nature of the lesions, the frequent association with developmental delay, and additional congenital malformations without a consistent pattern. Therefore, we agree with the conclusion of Schnur and Zackai [1997] to perform a skin biopsy to gain further insight in the pathogenesis, but in addition to histological examination, a fibroblast culture for karyotyping should be considered as well.…”

Section: To the Editorsupporting

confidence: 88%

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Devriendt¹,

Vanhole

Bogaert

2004

American J of Med Genetics Pt A

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Section: To the Editorsupporting

confidence: 88%

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Devriendt¹,

Vanhole

Bogaert

2004

American J of Med Genetics Pt A

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“…Schnur et al (12) found an underlying smooth muscle hamartoma in a karyotypically abnormal child with multiple anomalies, mental retardation, hypertrichosis, and circumferential ringed creases. This histologic change was documented in four other children with circumferential skin creases, described by Oku et al (13) and Schnur and Zackai (14). They also recommended that both karyotype and skin biopsy be performed in children with ringed skin creases, with and without other anomalies.…”

Section: Discussionmentioning

confidence: 59%

Spontaneously Improving Michelin Tire Baby Syndrome

Sardana¹,

Mendiratta²,

Kakar³

et al. 2003

Pediatric Dermatology

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Michelin tire syndrome is described in a 22-month-old girl of Indian origin who had generalized folding of the skin, esotropia, epicanthic folds, and delayed speech. Histopathology showed diffuse lipomatous hypertrophy. The skin changes showed partial improvement on follow-up. We report this case because of its rarity. Furthermore, the spontaneous improvement is significant, unlike the persistent course of other congenital nevi.

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“…It's a rare disorder and multiple anomalies may accompany to circumferential skin creases. Eighteen cases have been reported in the literature so far [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. According to the literature, our patient is the first neonate of Michelin Tire Baby Syndrome associated with severe gigantism and craniosynostosis.…”

Section: Introductionmentioning

confidence: 66%

“…Congenital symmetrical circumferential skin creases are a rare feature and have occasionally been associated with frequent congenital anomalies such as hypotelorism, epicanthal folds, upward slanting of the palpebral fissures, malformed ears, cleft palate, micrognathia, hemihypertrophy, ureterocele, mental retardation, convulsion, and/or neuroblastoma [1,2,7,9,17]. However, in our case most striking anomalies were gigantism and craniosynostosis which were firstly described in association with MTBS.…”

Section: Discussionmentioning

confidence: 99%

A Novel Neonatal Michelin Tire Baby Syndrome with Craniosynostosis and Gigantism

Akalın¹

2015

Ann Clin Anal Med

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ÖzetMichelin Lastik Bebek Sendromu, klinik olarak iyi tanımlanmış özellikle çoklu halka şeklinde deri katlantıları ile karakterize nadir bir konjenital anomalidir. Hastamız, 38 yaşında akrabalık olmayan ailenin 3. çocuğu olarak sağlıklı anneden son adet tarhine göre olaysız 40 haftalık gebelikten belirgin deri katlantıları ve devlik ile doğdu. Doğumda kilosu 4950 gr (>90 persentil), boyu 57.5 cm,(>90 persentil) ve baş çevresi 39,5 cm (>90 persentil) idi. Fizik muayenede kaba yüz, brakisefali ve kraniosinoztoz saptandı. Doğumda vital ve laboratuar bulguları normal sı-nırlarda idi. Kraniyel ve renal ultrasonogramlar, X-ray grafiler ve karyotip analizi normal idi. Ekokardiyografide küçük patent duktus arteriosus ve patent foramen ovale saptandı. Bu yazımızda, eşlik eden gigantizm ve kraniosinostoz bulguları olan literatürdeki ilk Michelin Lastik Bebek Sendromlu bir yenidoğan olguyu, detaylı literatür incelemesi ile birlikte sunduk. Anahtar KelimelerMichelin Lastik Bebek Sendromu; Deri Katlantıları; Kraniosinoztoz; Gigantizm Abstract Michelin Tire Baby Syndrome is a rare congenital disorder and characterized clinically well defined multiple ring shaped skin creases. Our patient was born to nonconsanguineous healthy parents as the third child of the family at 40 weeks of uneventful gestation with distinctive skin creases and gigantism. He was 4,950 g in weight (>90 percentile), 57.5 cm in length (>90 percentile), and had a head circumferences of 39.5 cm (>90 percentile) at birth. The physical examination showed a rough face, brachicephaly and craniosynostosis. His vital and laboratory findings were within normal limits at birth. Cranial and renal ultrasonograms, Xray graphics and cytogenetic analyses were normal. Echocardiography revealed small patent ductus arteriosis and patent foramen ovale. In this report, we present a new case of Michelin Tire Baby Syndrome who is the first neonate associated with severe gigantism and craniosynostosis, in the literature. A review of the related literature has also been presented.

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Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?

Cited by 7 publications

References 6 publications

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Spontaneously Improving Michelin Tire Baby Syndrome

A Novel Neonatal Michelin Tire Baby Syndrome with Craniosynostosis and Gigantism

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