Hypohydrotic ectodermal dysplasia, a clinical case and review of the literature;Displasia ectodérmica hipohidrótica, caso clínico y revisión de la literatura

Revista Chilena de Pediatria

Volumn 76, Issue 2, 2005, Pages 166-172

  Araníbar D , Ligia ^a   Lay Son R , Guillermo ^a,b   Sanz C , Patricia ^b   Castillo T , Silvia ^b  

^a UNIVERSITY OF CHILE   (Chile)

^b HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

Author keywords

Genetics; Hyperthermia; Hypohydrosis; Hypohydrotic ectodermal dysplasia; Skin

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; FEMALE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MEDICAL LITERATURE; REVIEW; SCANTY HAIR; SCHOOL CHILD; SWEATING; TOOTH MALFORMATION;

EID: 31344432915     PISSN: 03704106     EISSN: 07176228     Source Type: Journal    
DOI: None     Document Type: Review

References (29)

1. Sarvan I, Naidoo S, Norval EJ: Hypohydrotic ectodermal dysplasia. SADJ 2000; 55: 34-7.
2. Gorlin RJ: Hypohidrotic ectodermal dysplasia. En: Syndromes of the Head and Neck. 3° Ed. Oxford Monografhs on Medical Genetics No19, 1998; 451-5.
3. Ruiz-Maldonado R, Parish LC, Beare JM, Paller AS: Displasia ectódermica hipohidrótica En: Tratado de Dermatología Pediátrica 1° Ed. en español. México. Ed. Interamericana, S.A. 1992; 89-91.
4. Kargul B, Alcan T, Kabalay U, Atasu M: Hypohidrotic ectodermal dysplasia: Dental, clinical, genetic and dermatoglyphic findings of three cases. J Clin Pediatr Dent; 26: 5-12.
5. Zankl A, Addor MC, Cousin P, Gaide AC, Gudinchet F, Schorderet DF: Fatal outcome in a female monozygotic twin with X- linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t (X;9) translocation with probable disrruption of the EDA gene. Eur J Pediatr 2001; 160: 296-9.
6. Ellis SG, Alrmed H: Hypohydrotic ectodermal dysplasia affecting a female patient. Dent Update 1993; 20: 447-50.
7. Plottova-Puech I, Cambazard F: Dysplasies ectodermiques hypohidrotiques. Ann Dermatol Venereol 2002; 129: 1276-85.
8. Priolo M, Lagana C: Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet 2001; 38: 579-85.
9. Sadler TW: Período Embrionario. En: Sadler TW. Langman de Embriología médica. 7° Ed. en español. Buenos Aires. Ed Médica Panamericana S.A. 1996; 62-83.
10. O'Rahilly R, Müller F: Sistema Integumentario. En: O'Rahilly R, Müller F. Embriología y Teralogía Humanas. 1° Ed. en español. Masson S.A. 1998; 157-66.
11. Lamartine J: Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003; 28: 351-355.
12. Goodman RM, Gorlin RJ: Displasia ectodérmica hipohidrótica. En: Trastornos genéticos. Barcelona. Ed. JIMS. 1973; 94-5.
13. Solomon LM, Keuer EJ: The ectodermal dysplasia. Arch Dermatol 1980; 116: 1295-9.
14. Muñoz F, Lestringant G, Sybert V, et al: Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997; 61: 94-100.
15. Dittmer A, Erler T, Gurski A, Muller P: Hypohidrotic ectodermal dysplasia as the cause of recurrent hyperthermia in a young infant. Kinderarztl Prax 1992; 60: 239-42.
16. Shaw RM: Prosthetic management of hipohydrotic ectodermal dysplasia with anodontia. Aust Dent J 1990; 35: 113-6.
17. Fuenmayor HM, Roldan-Paris L, Bermudez H: Ectodermal dysplasia in females and inversion of chromosome 9. J Med Genet 1981; 18: 214-7.
18. Ishikawa M, Kawasumi M, Norma T: Anodontia 4: Crown shape of teeth of the anodontia with anhydrotic and hypohydrotic ectodermal dysplasia. Shoni Shikagaku Zasshi. 1989; 27: 876-83.
19. Gilgenkrantz S, Blanchet-Bardon C, Nazzaro V, Formiga L, Mujica P, Alembik Y: Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. Human Genet 1989; 81: 120-2.
20. Dunn WJ: Hypohidrotic ectodermal dysplasia. Gen Dent 2003; 51: 346-8.
21. Fitzpatrick TB, Sato K: Dermatología en medicina general. 4° Ed. en español, Buenos Aires. Ed. Médica Panamericana S.A. 1993; 7: 84-785.
22. Kere J, Srivastava AK, Montonen O, et al: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-16.
23. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J: Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999; 22: 366-9.
24. Headon DJ, Emmal SA, Ferguson BM, et al: Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001; 414: 913-6.
25. Headon DJ, Overbeek PA: Involvement of a novel Tnf receptor homologue in hair follicle induction. Nat Genet 1999; 22: 370-4.
26. Laurikkala J, Pispa J, Jung HS, et al: Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 2002; 129: 2541-53.
27. Orange JS, Geha RS: Finding NEMO: genetic disorders of NF-xB activation. J Clin Invest 2003; 112: 983-5.
28. Smahi A, Courtois G, Rabia SH, et al: The NF-?B signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deûciency syndromes. Hum Mol Genet 2002; 11: 2371-5.
29. Cambiaghi S, Restano L, Paakkonen K, Caputo R, Kere J: Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol 2000; 136: 217-24.