Morales MA, Ramírez DSM, Mena CCA, Toledo BM, Ramírez CE, Valencia HA

Language: Spanish
References: 10
Page: 29-34
PDF size: 312.90 Kb.

ABSTRACT

Cutis laxa syndrome (congenital generalized elastolysis) is a rare disease integrated by a heterogeneous group of diseases characterized by loose redundant and pendulous skin hanging, which can affect other organs. Histopathological findings are characterized by disruption of elastic fibers. Cutis laxa is an acquired or inherited autosomal dominant or recessive heterogeneous condition with different causes and associations. It has a wide variability of phenotype, prognosis. Its forms can be benign and malignant as well as lethal. The knowledge of this entity is needed to control and to try to prevent the complications and specially offer genetic counseling since it is congenital, and unfortunately has no successful treatment.

REFERENCES

1. Antaya RJ, “Cutis Laxa”. En: John Harper, Arnold Orange, Neil Prose. Textbook of Pediatric Dermatology, Vol II. Massachusetts, Blackwell Publishing, 2a ed. 2006: 1658-1652.

2. Paller A, “Genetic disorders of dermis”. En: Lawrence AS, Ronald CH. Pediatric Dermatology, India, Mosby, 3a ed. 2003: 285-287.

3. Burrows NP, Lovell CR. “Disorders of Connective Tissue”. En: Burns TS, Cox N, Griffi Ch. Rook’s Textbook of Dermatology, Vol. 3. Oxford, Blackwell Publishing, 8a ed. 2010: 45.14-45.17.

4. Uitto J, Pulkkinen L. “Heritable diseases affecting the elastic tissues: Cutis laxa, pseudoxanthoma elasticum and related disorders”. En: Rimoin DL, Connor JM, Pyeritz R, Korf BR (eds). Emery & Rimoin’s Principles and Practice of Medical Genetics, Vol. 3. Nueva York. Churchill Livingstone, 5a ed. 2002: 4044-4070.

5. Cutis laxa internacional: http://asso.orpha.net/cutislax/es05-cutis_laxa_ asociacion.htm

6. Chen H. Atlas of Genetic Diagnosis and Counseling Humana. Vol 1., 1a ed. New Jersey. Humana Press Inc, 2006: 207-211.

7. Zsolt U, Vishwanathan H, Nura, Vesna, Lior Z, et al. “Mutation in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal and dermal development”. Am J Hum Genet 2009; 85(5): 593-605.

8. Amir H, Mehregan, Siong CL, Hossein N. “Cutis Laxa (Generalized Elastolysis) A report of four cases with autopsy findings”. J Cutan Pathol 1978; 5: 116-126.

9. Morava E, Guillard M, Lefeber DJ, Wevers RA. “Autosomal recessive cutis laxa syndrome revisited”. Eur J Hum Genet 2009; 17: 1099-1110.

10. Ledoux-Corbusier M. “Cutis laxa congenital form with pulmonary emphysema: an ultrastructural study”. J Cutan Pathol 1983; 10: 340-349.