Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?

Abstract

We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.

Keywords

circumferential ringed skin creases multiple congenital anomalies mental retardation

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References

Ross CM Generalized folding skin with an underlying lipomatous nevus. The Michelin tire baby. Arch Dermatol. 1969;100:320-323.

Kunze J. , Riehm H. A new genetic disorder: autosomal dominant multiple benign ring-shaped skin creases. Eur J Pediatr. 1982; 138:301-313.

Niikawa N. , Ishikiriyama S. , Shikimani T. The ``Michelin tire baby'' syndrome-an autosomal dominant trait. Am J Med Genet. 1985;22:637-638.

Glover MT , Malone M. , Atherton DJ Michelin-tire baby syndrome resulting from diffuse smooth muscle hamartoma . Pediatr Dermatol. 1989;6:329-331.

Elliot AM , Ludman M. , Teebi AS New syndrome?: MCA/MR syndrome with multiple circumferential skin creases . Am J Med Genet. 1996;62:23-25.

Gardner EW , Miller HM , Lowney ED Folded skin associated with underlying nevus lipomatous. Arch Dermatol. 1979;115: 978-979.

Patrizi A. , Neri I. , Varitti C. Un autre cas de naevus musculaire generalise avec aspect clinique de ``bebe Michelin'' associé à une mastocytose cutanee. Ann Dermatol Venereol. 1989;116: 551-554.

Schnur RE , Herzberg AJ , Spinner N. , et al. Variability in the Michelin tire syndrome. J Am Acad Dermatol. 1993;28: 364-370.

Wallach D. , Sorin M. , Saurat JH Naevus musculaire generalise avec aspect clinique de ``bebe Michelin. '' Arch Dermatol Venereol. 1980;107:923-927.

10.

Burgdorf WN , Doran CK , Worret WI Folded skin with scarring: ``Michelin'' tire baby syndrome? J Am Acad Dermatol. 1982; 7:90-93.

11.

De Prost Y. , Geoffroy G. , Rault G. , Teillac D. Syndrome de Laron avec aspect clinique de ``bebe Michelin.'' Ann Dermatol Venereol. 1984;111:751-752.

12.

Sato M. , Ishikawa O. , Miyachi Y. , Aoki T. , Tomomasa T. , Nagashima K. Michelin tire syndrome: a congenital disorder of elastic fibre formation? Br J Derm. 1997;136:583-586.

13.

Sardana K. , Mendiratta V. , Kabar N. , Sharma RC , Koranne RV , Sethi S. Spontaneously improving Michelin tire baby syndrome. Pediatr Dermatol. 2003;20:150-152.

14.

Cohen MM , Gorlin RJ , Clark R. , et al. Multiple circumferential skin folds and others anomalies: a problem in syndrome delineation. Clin Dys. 1993;2:39-46.

15.

Leonard NJ A second patient with MCA/MR syndrome with multiple circumferential skin creases . Am J Med Genet. 2002; 112:91-94.