Michelin tire baby syndrome
| Michelin tire baby syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 156610 |
Michelin tire baby syndrome (also known as "Folded skin with scarring"[1]:625), 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.[2]
Twenty cases of this hamartomatous disorder have been reported.
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[edit] See also
[edit] Notes
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Ross CM (September 1969). "Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby"". Arch Dermatol 100 (3): 320–3. doi:10.1001/archderm.100.3.320. PMID 4980758. http://archderm.ama-assn.org/cgi/pmidlookup?view=long&pmid=4980758.
[edit] References
- Schnur RE, Herzberg AJ, Spinner N, et al. (February 1993). "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. 28 (2 Pt 2): 364–70. doi:10.1016/0190-9622(93)70056-Y. PMID 8436660.
- Schnur RE, Zackai EH (March 1997). "Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis?". Am. J. Med. Genet. 69 (2): 221. doi:10.1002/(SICI)1096-8628(19970317)69:2<221::AID-AJMG22>3.0.CO;2-M. PMID 9056567.
- Pivnick EK, Wilroy RS, Martens PR, Teather TC, Hashimoto K (April 1996). "Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?". Am. J. Med. Genet. 62 (4): 386–90. doi:10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K. PMID 8723069.
- Oku T, Iwasaki K, Fujita H (November 1993). "Folded skin with an underlying cutaneous smooth muscle hamartoma". Br. J. Dermatol. 129 (5): 606–8. doi:10.1111/j.1365-2133.1993.tb00495.x. PMID 8251362.
[edit] External links
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