Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1;Dysplasie ectodermique anhidrotique familiale : une mutation rare du gène EDA1

Annales de Dermatologie et de Venereologie

Volumn 136, Issue 1, 2009, Pages 28-31

  Tomb, R ^a   Soutou, B ^a   Zalloua, P ^b  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

Anhidrotic ectodermal dysplasia; EDA; Genetic; Hypohidrosis

Indexed keywords

ISOTRETINOIN; DERMATOLOGICAL AGENT; ECTODYSPLASIN A; EDA PROTEIN, HUMAN;

ACNE; ADULT; ANAMNESIS; ANHIDROSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONSANGUINITY; DRUG TOLERABILITY; ECTODERMAL DYSPLASIA; EDA1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; KELOID; MISSENSE MUTATION; PHYSICAL EXAMINATION; SCANTY HAIR; EXON; GENETICS; MALE; PATHOLOGY;

CODON; DERMATOLOGIC AGENTS; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; EXONS; HUMANS; ISOTRETINOIN; MALE; MUTATION, MISSENSE; YOUNG ADULT;

EID: 61549114324     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.annder.2008.04.018     Document Type: Article

References (14)

1. Freire-Maia N., and Pinheiro M. So-called "anhidrotic ectodermal dysplasia". Int J Dermatol 19 (1980) 455-456
2. Freire-Maia N., and Pinheiro M. Ectodermal dysplasias - some recollections and a classification. Birth Defects Orig Artic Ser 24 (1988) 3-14
3. Priolo M., and Laganà C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet 38 (2001) 579-585
4. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 28 (2003) 351-355
5. Monreal A.W., Zonana J., and Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63 (1998) 380-389
6. Plottova-Puech I., and Cambazard F. Dysplasies ectodermiques hypohidrotiques. Ann Dermatol Venereol 129 (2002) 1276-1285
7. Sybert V. Genetic Skin Disorders (1997), Oxford University Press, New York
8. Hadj-Rabia S., Smahi A., and Bodemer C. Dysplasies ectodermiques anhidrotiques et incontinentia pigmenti. Les pièces d'un même puzzle. Ann Dermatol Venereol 129 (2002) 277-280
9. Chassaing N., Bourthoumieu S., Cossee M., Calvas P., and Vincent M.C. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27 (2006) 255-259
10. Headon D.J., Emmal S.A., Ferguson B.M., Tucker A.S., Justice M.J., Sharpe P.T., et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414 (2001) 913-916
11. Bal E., Baala L., Cluzeau C., El Kerch F., Ouldim K., Hadj-Rabia S., et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 28 (2007) 703-709
12. Kirby B., Caird A., and Rogers S. Intolerance of isotretinoin in a patient with anhidrotic ectodermal dysplasia. Br J Dermatol 141 (1999) 175
13. Yavuz I., Baskan Z., Ulku R., Dulgergil T.C., Dari O., Ece A., et al. Ectodermal dysplasia: retrospective study of 15 cases. Arch Med Res 37 (2006) 403-409
14. Itin P.H., and Fistarol S.K. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet 131C (2004) 45-51