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2012, Number 08

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MediSan 2012; 16 (08)

Cutis laxa in an infant

Basulto GN, Pereira GG, Rodríguez VOE, Vaillant SG
Full text How to cite this article

Language: Spanish
References: 6
Page: 1317-1320
PDF size: 241.25 Kb.


Key words:

infant, cutis laxa, elastolysis, pendulous skin, ophthalmology hospital, Algeria.

ABSTRACT

The clinical case of an infant aged 18 months is described, who was attended in the Outpatient Department from "Amistad Argelia-Cuba" Ophthalmology Hospital of the Wilaya of Djelfa in the People's Democratic Republic of Algeria due to eyelid drooping. On physical examination coarse facies, hiperextensible and sagging, wrinkled lax skin with large folds were observed, as well as aging appearance, blepharochalasis and ectropion. There were not musculoskeletal changes, groin or umbilical hernia, or other gastrointestinal, genitourinary or cardiopulmonary manifestations. Taking into account clinical characteristics it was concluded that the patient presented with cutis laxa.


REFERENCES

  1. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002; 11(18):2113-8.

  2. Guía Torrent JM, Castro GarcíaF, Cuenca Gómez M, Gracián Gómez M. Alteraciones cardivasculares en el síndrome de cutis laxa congénito. Rev Esp Cardiol. 1999; 52(3): 204-8.

  3. Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE. Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. Am J Med Genet A. 2008; 146; 21:2740-5.

  4. Martín Jiménez J. Cutis laxa tipo 1: a propósito de un caso. An Esp Pediatr. 2002; 56:174-8.

  5. Graul Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet Part A. 2008;146 (8):977-83.

  6. Pierini AM, Baumann AK, Cervini AB, Chico AB, Cordisco MR, Laterza A, et al. Cutis laxa congénita: descripción de cuatro casos infantiles. Arch Argent Dermatol. 2000; 50(5):189-99.




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C?MO CITAR (Vancouver)

MediSan. 2012;16