2004, Number 2
<< Back Next >>
Rev Med UV 2004; 4 (2)
Ictiosis
Rodríguez GR, Román AR, Izquierdo MJA
Language: Spanish
References: 24
Page: 16-20
PDF size: 391.74 Kb.
ABSTRACT
Introduction. Ichthyosis is a group of illnesses that produces visible scales on all or a great part of the surface of the skin. Autosomal recessive ichthyosis is characterized by dry skin, desquamation of scales, and hyperkeratosis. The unpleasant appearance of this illness generates psychological disorder in the patients.
Cases. Two cases clinical cases of autosomal recessive ichthyosis are described one in a child and another in a young boy from the municipality of Ixhuatlán del Sureste, Veracruz. (The genealogical trees) are characterized with autosomal recessive ichthyosis illnesses. The most common clinical manifestations were ectropion, epiphora, eclabium, hyperkeratosic lesions in all the body. One patient has lost the right eye due to an ocular infection.
Conclusions. The autosomal recessive ichthyosis is an illness that is observed with certain frequency in this region. These two cases are added to the other four cases that had been previously reported in Veracruz. At present there is no treatment to cure this illness, there is only palliative treatment.
REFERENCES
Arenas R. Dermatología. Atlas, diagnóstico y tratamiento. 2a ed. México: McGraw-Hill; 1997,. p. 225-30.
Rassner G, Steiner U. Atlas y texto de dermatología. 4a ed. México: Mosby and Doyma Libros; 1995,. p. 24-7.
Ruiz-Maldonado R, Parish Le. Beare JM. Tratado de dermatología. Ictiosis y dermatosis ictiosiformes. México: Interamericana; 1992,. p. 109-23.
Andrews DA. Tratado de dermatología. 2a ed. México: Salvat; 1992,. p. 109-23.
Cortina WJ, Cruz MJ, Villalobos AO, Espinosa MA. Ictiosis congênita (feto arlequín). Bol Méd Hosp Infant Mex 1975; 32: 699-702.
Rodríguez García R, Belman PR, Dander AH, Cruz MW. Ictiosis autosómica recesiva: informe de 4 casos del sur de Veracruz. Bol Med Hosp Infant Mex 2002; 59: 372-8.
Russell LJ, Di Giovanna JJ, Hashem N, Compton JG, Bale SJ. Linkage of autosomal recessive lamellar ichthyosis to chromosoma 14 q. Am J Hum Genet 1994; 55: 1146-52.
Fischer J. Faure A, Bouadjar L.Two new loci autosomal recessive ichthyosis to chromosomes 3p21 and 19p 12-q 12 and evidence for further genetic heterogenety. Am J Hum Genet 2000; 66: 904-1 3.
Virolainen E. Wessman M. Hovatta 1, et al. Assignment of a novellocus for autosomal recessive congenital ichthyosis to chromosome 19pI3.I-pI3.2.Am J Hum Genet 2000; 66: 1132-7.
Cserhalmi-Friedman PB, Milstone LM, Christian o AM. Diagnosis of autosomal recessive lamellar ichthyosis wfth mutations in the TGM 1 gene. Br J Dermatol 2001; 144: 726-30.
Russell LJ, Di Giovanna JJ, Rogers GR. Mutations in the gene for transglutaminase I in autosomal recessive lamellar ichthyosis. Nat Genet 1995; 9: 279-83.
Huber M. Rettler 1, Bernasconi K Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 27: 525-8.
Huber M, Rettler 1, Bernasconi K, Wyss M, Hohl D. Lamellar ichthyosis is genetically heterogeneous cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995; 105: 653-4.
Hennies HC, Kuster’vV, Wiebe V, Krebsoba A. Reis A. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998; 62: 1052-61.
Esposito G. Auricchio lo Rescigno G. Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis. J Invest Dermatol 200 1; 1 1 6: 809-12.
Solari AJ. Genética humana. Fundamentos y aplicaciones en medicina. 2a ed. Buenos Aires, Argentina: Panamericana; 1999. p. 300-1.
Rivera VMR, Cervantes PA. La nueva genética. Rev Med Hosp Gral Mex 1997; 60: 188-95.
Lawlor F. Progreso de un feto arlequín a una eritrodermia no ampollosa. Pediatrics (Español) 1988; 28: 343-7.
Leung P, Ma G. Ectropion of all four eyelids associated with severe ichthyosis congenital: a case reporto Br J Plast Surg 1981; 34: 302-4.
Katowitz J, Yolles E, Yanolf M. Ichthyosis congenital. Arch Ophthalmol 1974; 91: 208-10.
Sever R, Frost P, Weinstein G. Eye changes in ichthyosis.
Oestreicher J, Nelson C. Lamellar ichthyosis ahd congenital ectropion. Arch Ophthalmol 1990; 108: 1772-3.
Pinto ED, Ceballos QJM, Castillo ZI, López AT. Fundamentos y actualidades del asesoramiento genético. Rev Biomed 2001; 12: 186-95.