Epidermolisis ampollosa

  • Ana María Abréu Vélez Hospital San Vicente de Paúl
  • Stella Prada de Castañeda Asociación Colombiana de Dermatología
Palabras clave: epidermolisis ampollosa, zona de la membrana basal

Resumen

Las epidermolisis ampollosas (EA) pertenecen al grupo de enfermedades ampollosas cutáneas y son de índole congénita, a excepción de la epidermólisis ampollosa adquirida, la cual se caracteriza por la presencia de autoanticuerpos dirigidos contra el nc1, dominio del colágeno tipo VII. Las EA, en general, se caracterizan por presencia de ampollas cutáneas y en mucosas, principalmente oral y

Biografía del autor/a

Ana María Abréu Vélez, Hospital San Vicente de Paúl

Dermatología, Medicina Interna.

Referencias bibliográficas

1 Anderson TF, Voorhees JJ, Thiers BH, Dobson RL (eds). Pathogenesis of skin disease. New York, Churchill Livingstone, 1996.

2 Champion RH. Textbook of Dermatology. 5" ed. Blackwell Scientific Ud., 1995.

3 Anton-Lamprecht l., Arnold M. Prenatal diagnosis of inherited epidermolysis. Curr Probl Derm 1987; 16: 146-157.
https://doi.org/10.1159/000413462

4 Chan LS, Chen M, Woodley DT. Epidermolysis bullosa acquisita in the elderly: clinical manifestation, diagnosis, and therapy. J Geriatr Dermatol 1996;4:47-52.

5 Carter DM, Lin AN. Wound healing and epidermolysis bullase. Arch Dermatol 1988; 124:732-733.
https://doi.org/10.1001/archderm.1988.01670050076025

6 Fitzpatrick J. Dermatology Secrets. Blackwell Ud. (eds Hanley & Belfus lnc,). NY, 1996, 116.

7 Garrad DR. Desmosomes and hemidesmosomes. Curreilt Opin Ce// Biol 1993; 5:30-40.
https://doi.org/10.1016/S0955-0674(05)80005-5

8 Fine JO, Johnson L, Wrigth T. Epidermolysis bullosa simplex superficialis. Arch Dermatol 1989; 125:633-638.
https://doi.org/10.1001/archderm.1989.01670170047006

9 Fuchs E, Coulombe PA. Of mice and men: genetic skin disease of keratin. Cell 1992; 69:899-902.
https://doi.org/10.1016/0092-8674(92)90607-E

10 Gedde-Dahl T Jr. Epidermolysis bu llosa syndromes. Curren/ Probl Derm 1987; 16: 129-145.
https://doi.org/10.1159/000413461

11 Gamobrg NP, Sjolund E. Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome. Acta Derm Venearol (Stockh) 1985; 65: 526-530.

12 Berstain IA. The proteins of keratohyalin. In: Biochemistry and Physiology of the Skin. Lowell and Goldsmith (eds). New York, Oxford University Press, 1993; pp 17183.

13 Brucker-Tuderman L, Vogel A, Ruegger S et al. Epidermolysis bu llosa simplex with mottled Pigmentation. J Am Acad Dermatol 1989; 21 :425-432.
https://doi.org/10.1016/S0190-9622(89)80052-0

14 Gans LA. Eye lesions of epidermolysis bullosa. Arch Dermatol 1988; 124:762-764.
https://doi.org/10.1001/archderm.1988.01670050106033

15 Aberdam D, Galliano MF, Vailly, Hertiz's. Junctional epidermolysis bu llosa is liked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (Laminin-5). Nature Gene/ 1994; 6:299-304.
https://doi.org/10.1038/ng0394-299

16 Burgeson RE, Chiquet M, Deutzman R. A new nomenclature for laminis. Matrix Biology1994; 14:209-215.
https://doi.org/10.1016/0945-053X(94)90184-8

17 Domloge-Hultsch, Gammon WR, Briggaman RA et al. Epiligrin, the majar human keratinocyte ligand, is targeted in both an acquired autoimmune and an inherited subepidermal blistering disease. J Clin lnvest 1992; 90:1628-1633.
https://doi.org/10.1172/JCI116033

18 Shwarz, MA, Owaribe K, Kartenbeck J, Franke W W. Desmosomes and hemidesmosomes: constitutive molecular components. Annu RevCe/1 Bio/1990; 6:461-491.
https://doi.org/10.1146/annurev.cb.06.110190.002333

19 Jonkman MF, de Jong MC, Heeres K et al. 180 kD Builous pemphigoid antigen is deficient in generalized atrophic benign . epidermolysis bu llosa, J C!in lnvest 1995; 95:1345-1352.
https://doi.org/10.1172/JCI117785

20 Meneguzzi G, Marinkovich MP, Aberdam D et al. Kalinin is abnormally expressed in epithelial basement membranes of Helitz's JEB patients, Exper Dermatol 1992; 1 :221-229.
https://doi.org/10.1111/j.1600-0625.1992.tb00080.x

21 Brucker-Tuderman Lmitsuhashi Y, Schnyder U et al. Anchoring fibrils and type vil collagen are absent from skin in severe recessive dystrophic epi_dermolysis bullosa. J lnvest Dermatol 1989; 93:3-9.
https://doi.org/10.1111/1523-1747.ep12277331

22 Chavanas S, Vailly J, Gache Y, et al. lntegrin 84 and mild junctional epidermolysis bullosa with pyloric atresi. J lnvest Dermatol Abst 1997; 108: 588.

23 Fine JO, Horiguchi Y, Couchman JR. 19-DEJ-1. A hemidesmosome-anchoring filaments complex associated monoclonal antibody. Definition of a new skin basement membrana antigenic defect in junctional and dystrophic epidermolysis bu llosa. Arch Dermatol 1989; 125:520-523.
https://doi.org/10.1001/archderm.1989.01670160068010

24 PulkiKinen L, Christiano AM, Airene T et al. Mutation in the g2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolyses bu llosa skin displays a chronic growth­activated immunophenotype. Arch Dermatol 1990; 126:78-63.
https://doi.org/10.1001/archderm.1990.01670250084014

25 Janes PH, Watt FM. Separation of human epidermal stem cells from transit amplyfing cells on the basis of differences in integrin function and expression. Cell 1993; 73:713-724.
https://doi.org/10.1016/0092-8674(93)90251-K

26 Marinkovich MP. The molecular genetics of basement membrana disease. Arch Dermatol 1993; 129: 1557-1565.
https://doi.org/10.1001/archderm.1993.04540010035004

27 Moss C. Dermatology and the new genetics (eds) Blackwell Science, England Ud, 1995.

28 Gedde-Dahl T Jr. Epidermolysis bullosa. Arch Dermatol 1988; 124:762-764.
https://doi.org/10.1001/archderm.124.5.762

29 Brucker-Tuderman L, Pfatz M, Schnyder U. Epidermolysis bullosa dystrophica inversa in a Child. Ped Dermatol 1990; 7:116-121.
https://doi.org/10.1111/j.1525-1470.1990.tb00666.x

30 Epstein E. Finding the mutation causing hereditary diseases of the skin.1992; 126il-5.

31 Fey EG, Wan KM, Penmann S. Epithelial cytoskeletal framework and nuclear matrix intermediate filaments scafold: three dimensional organization and protein composition. J Ce// Bio/1984; 98:1973-1984.
https://doi.org/10.1083/jcb.98.6.1973

32 Greider JL, Flatt AE. Surgical restoration of the hand in epidermolyses bullosa. Arch Dermato/1988; 124:765-767.
https://doi.org/10.1001/archderm.124.5.765

33 Robin AC, Brown G. Lecture Notes on Dermatology. Blackwell Scientific Ud, England, 7ed.Lecture notes series, 1996.

34 Nowack AJ. Oropharyngeal leasions and their management in epidermolysis bu llosa. Arch Dermatol 1998; 124:742-745.
https://doi.org/10.1001/archderm.1988.01670050086028
Cómo citar
1.
Abréu Vélez AM, Prada de Castañeda S. Epidermolisis ampollosa. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 1 de febrero de 1999 [citado 26 de noviembre de 2022];7(1):16-23. Disponible en: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/740

Descargas

Los datos de descargas todavía no están disponibles.
Publicado
1999-02-01
Sección
Sin sección en el original