| Title | [Cutis laxa syndrome. Case report] |
| Author(s) | Kermane A, Tachfouti S, Lezrek M, Mohcine Z |
| Institution | Service d'Ophtalmologie A, Hôpital des Spécialités Rabat, Maroc. |
| Source | Bull Soc Belge Ophtalmol 2004; (292):5-8. |
| MeSH | Child, Preschool
Cutis Laxa
Ectropion
English Abstract
Entropion
Humans
Male
Physical Examination
|
| Abstract | INTRODUCTION: Cutis laxa is a heterogeneous group of connective tissue disorders,characterized by loose skin and variable systemic involvement. The characteristic symptomatological pattern is resulting from paucity of elastic fibers.
CASE REPORT: A 4 year-old boy with a congenital cutis laxa was sent by his pediatrician for ophthalmic examination. His examination revealed an ectropion of the right lower lid and an entropion of the left lower lid. His general physical examination showed multiple visceral involvement, with inguino-scrotal hernia, multiple dental caries and severe pulmonary emphysema responsible for death two weeks after.
DISCUSSION: Cutis laxa is an extremely rare group of disorders. Congenital and acquired varieties have been described. The association of ocular anomalies has been described in the autosomal recessive form. Through this case report we shall discuss the ophthalmological signs of this disease as well as its clinical and genetic manifestation and its physiopathology. |
| Language | fre |
| Pub Type(s) | Case Reports
Journal Article
|
| PubMed ID | 15253484 |
