Multiple circumferential skin creases: Another sign of genetic mosaicism?

Devriendt, Koenraad; Vanhole, Christine; Bogaert, Guy

doi:10.1002/ajmg.a.30324

Cited by 4 publications

(6 citation statements)

References 7 publications

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“…Those papers reporting inheritance patterns have suggested autosomal dominant and autosomal recessive inheritance. Those few reporting chromosomal abnormalities (specifics noted in Table ) have not revealed any consistency.…”

Section: Compilation Of Reported Casesmentioning

confidence: 95%

“…Of the 42 patients reported, biopsies showed underlying smooth muscle hamartoma in 10 and nevus lipomatosus in 7 , and the remaining 25 patients are listed as no biopsy or other. In this last group, biopsies showed normal skin in 2 patients , 1 patient had degenerative collagen on biopsy , 1 showed scar , and 21 patients were not biopsied . This table lists, in order of frequency, all of the accompanying features that have been reported in at least three patients with the MTB phenotype.…”

Section: Compilation Of Reported Casesmentioning

confidence: 95%

“…Additionally, I did not use excess hair as a criterion because that seemed to result from the existence of smooth muscle hamartoma and so was not a separately identifiable feature. Congenital heart defects have not been included as an acceptable criterion because the ones reported were all of different types, including ventricular septal defect , tricuspid regurgitation , and atrial septal defect .…”

Section: Proposed Criteria For a Syndromementioning

confidence: 99%

“…In most cases with the MTB phenotype in which biopsy has been performed, pathologic examination has shown underlying smooth muscle hamartoma or nevus lipomatosus . Other cases have revealed degenerative collagen or scarring on pathology, and in a number of cases, biopsies showed normal skin or were not performed .…”

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confidence: 99%

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Michelin Tire Baby Syndrome: A Review of the Literature and a Proposal for Diagnostic Criteria with Adoption of the Name Circumferential Skin Folds Syndrome

Rothman

2014

Pediatric Dermatology

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The term Michelin tire baby (MTB), named for the cartoon mascot of the Michelin Tire Company, has been used to describe babies with multiple symmetric circumferential rings of folded skin. In those reported with this phenotype who had skin biopsies, pathology has shown nevus lipomatosis, smooth muscle hamartoma, degenerative collagen, and scarring. Others did not undergo biopsy or had normal skin. Many individuals with the MTB phenotype have had a variety of other congenital anomalies. I review the literature on MTB and the history of the designation Michelin tire baby Syndrome (MTBS). Because the term MTBS has been poorly defined or not defined at all, I propose strict criteria for diagnosis. In doing so, it is recommended that the syndrome be renamed to avoid further confusion.

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Section: Compilation Of Reported Casesmentioning

confidence: 95%

Section: Compilation Of Reported Casesmentioning

confidence: 95%

Section: Proposed Criteria For a Syndromementioning

confidence: 99%

mentioning

confidence: 99%

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Michelin Tire Baby Syndrome: A Review of the Literature and a Proposal for Diagnostic Criteria with Adoption of the Name Circumferential Skin Folds Syndrome

Rothman

2014

Pediatric Dermatology

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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: 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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Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

Devriendt¹

2005

Human Reproduction Update

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Genomic imprinting, the differential expression of paternal and maternal alleles, is involved in the regulation of embryonic and fetal growth and development. In this review, we focus on the genetics of a disorder caused by a global defect in genomic imprinting, the hydatidiform mole. The ratio between the maternal and paternal genomes is critical in determining the development of both the embryonic and extraembryonic tissues, with an excess of paternally derived chromosomes leading to a complete (no maternal genome) or partial (lower amount of maternal chromosomes) mole. The recent identification and molecular studies in biparental complete moles may yield more insight into the regulation of imprinting during gametogenesis.

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Multiple circumferential skin creases: Another sign of genetic mosaicism?

Abstract: Fig. 3. Linear skin hyperpigmentation.

Cited by 4 publications

References 7 publications

Michelin Tire Baby Syndrome: A Review of the Literature and a Proposal for Diagnostic Criteria with Adoption of the Name Circumferential Skin Folds Syndrome

Michelin Tire Baby Syndrome: A Review of the Literature and a Proposal for Diagnostic Criteria with Adoption of the Name Circumferential Skin Folds Syndrome

A Novel Neonatal Michelin Tire Baby Syndrome with Craniosynostosis and Gigantism

Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

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